Linked Data
ClinVar Variation Id:
362896
ClinVar RCV Id:
RCV000284766
RCV000343209
RCV000337400
RCV000408775
RCV000404673
RCV000703651
RCV001528843
dbSNP Id:
rs200776757
ExAC:
8:38275808 C / A
gnomAD v2:
8-38275808-C-A
gnomAD v3:
8-38418290-C-A
gnomAD v4:
8-38418290-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38418290C>A , CM000670.2:g.38418290C>A | GRCh38 |
| NC_000008.10:g.38275808C>A , CM000670.1:g.38275808C>A | GRCh37 |
| NC_000008.9:g.38394965C>A | NCBI36 |
| NG_007729.1:g.55545G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703405.1:c.1368G>T | ENSP00000515291.1:p.Met456Ile | |
| ENST00000341462.9:c.1356G>T | ENSP00000340636.7:p.Met452Ile | |
| ENST00000425967.8:c.1356G>T | ENSP00000393312.4:p.Met452Ile | |
| ENST00000524528.2:n.2261G>T | ||
| ENST00000683765.1:c.1548G>T | ENSP00000507039.1:p.Met516Ile | |
| ENST00000683815.1:c.1356G>T | ENSP00000507997.1:p.Met452Ile | |
| ENST00000683948.1:n.2056G>T | ||
| ENST00000684654.1:c.1089G>T | ENSP00000507205.1:p.Met363Ile | |
| ENST00000447712.7:c.1368G>T MANE Select | ENSP00000400162.2:p.Met456Ile | |
| ENST00000649678.1:c.1356G>T | ENSP00000497266.1:p.Met452Ile | |
| ENST00000674189.1:c.*1014G>T | ENSP00000501345.1:n.*1014G>T | |
| ENST00000674217.1:n.1875G>T | ||
| ENST00000674380.1:c.*1335G>T | ENSP00000501514.1:n.*1335G>T | |
| ENST00000674474.1:n.2862G>T | ||
| ENST00000326324.10:c.1095G>T | ENSP00000327229.6:p.Met365Ile | |
| ENST00000335922.9:c.1338G>T | ENSP00000337247.5:p.Met446Ile | |
| ENST00000341462.8:c.*418G>T | ENSP00000340636.6:n.*418G>T | |
| ENST00000356207.9:c.1101G>T | ENSP00000348537.5:p.Met367Ile | |
| ENST00000397091.9:c.1362G>T | ENSP00000380280.5:p.Met454Ile | |
| ENST00000397103.5:c.1101G>T | ENSP00000380292.1:p.Met367Ile | |
| ENST00000397108.8:c.1362G>T | ENSP00000380297.4:p.Met454Ile | |
| ENST00000397113.6:c.1362G>T | ENSP00000380302.2:p.Met454Ile | |
| ENST00000425967.7:c.1461G>T | ENSP00000393312.3:p.Met487Ile | |
| ENST00000447712.6:c.1368G>T | ENSP00000400162.2:p.Met456Ile | |
| ENST00000466021.5:n.535G>T | ||
| ENST00000487647.5:c.1245G>T | ENSP00000435254.1:n.1245G>T | |
| ENST00000524528.1:n.385G>T | ||
| ENST00000526570.5:n.3647G>T | ||
| ENST00000527114.5:n.890G>T | ||
| ENST00000527745.3:n.596G>T | ||
| ENST00000532791.5:c.1362G>T | ENSP00000432972.1:p.Met454Ile | |
| ENST00000619564.3:c.*263G>T | ENSP00000484553.1:n.*263G>T | |
| NM_001174063.1:c.1362G>T | NP_001167534.1:p.Met454Ile | |
| NM_001174064.1:c.1338G>T | NP_001167535.1:p.Met446Ile | |
| NM_001174065.1:c.1362G>T | NP_001167536.1:p.Met454Ile | |
| NM_001174066.1:c.1101G>T | NP_001167537.1:p.Met367Ile | |
| NM_001174067.1:c.1461G>T | NP_001167538.1:p.Met487Ile | |
| NM_015850.3:c.1362G>T | NP_056934.2:p.Met454Ile | |
| NM_023105.2:c.1101G>T | NP_075593.1:p.Met367Ile | |
| NM_023106.2:c.1095G>T | NP_075594.1:p.Met365Ile | |
| NM_023110.2:c.1368G>T | NP_075598.2:p.Met456Ile | |
| XM_006716303.2:c.1368G>T | XP_006716366.1:p.Met456Ile | |
| XM_006716304.1:c.1368G>T | XP_006716367.1:p.Met456Ile | |
| XM_006716305.2:c.1368G>T | XP_006716368.1:p.Met456Ile | |
| XM_006716306.2:c.1362G>T | XP_006716369.1:p.Met454Ile | |
| XM_006716307.1:c.1362G>T | XP_006716370.1:p.Met454Ile | |
| XM_006716309.2:c.1344G>T | XP_006716372.1:p.Met448Ile | |
| XM_006716310.2:c.1101G>T | XP_006716373.1:p.Met367Ile | |
| XM_006716311.1:c.1101G>T | XP_006716374.1:p.Met367Ile | |
| XM_006716312.1:c.1101G>T | XP_006716375.1:p.Met367Ile | |
| XM_006716313.2:c.1095G>T | XP_006716376.1:p.Met365Ile | |
| XM_006716314.1:c.1095G>T | XP_006716377.1:p.Met365Ile | |
| XM_011544443.1:c.1467G>T | XP_011542745.1:p.Met489Ile | |
| XM_011544444.1:c.1461G>T | XP_011542746.1:p.Met487Ile | |
| XM_011544445.1:c.1461G>T | XP_011542747.1:p.Met487Ile | |
| XM_011544446.1:c.1467G>T | XP_011542748.1:p.Met489Ile | |
| XM_011544447.1:c.1461G>T | XP_011542749.1:p.Met487Ile | |
| XM_011544448.1:c.1200G>T | XP_011542750.1:p.Met400Ile | |
| XM_011544449.1:c.1194G>T | XP_011542751.1:p.Met398Ile | |
| XM_011544450.1:c.1194G>T | XP_011542752.1:p.Met398Ile | |
| XM_011544451.1:c.1077G>T | XP_011542753.1:p.Met359Ile | |
| NM_001354367.1:c.1362G>T | NP_001341296.1:p.Met454Ile | |
| NM_001354368.1:c.1089G>T | NP_001341297.1:p.Met363Ile | |
| NM_001354369.1:c.1356G>T | NP_001341298.1:p.Met452Ile | |
| NM_001354370.1:c.1095G>T | NP_001341299.1:p.Met365Ile | |
| XM_006716303.3:c.1368G>T | XP_006716366.1:p.Met456Ile | |
| XM_006716310.3:c.1101G>T | XP_006716373.1:p.Met367Ile | |
| XM_006716312.2:c.1101G>T | XP_006716375.1:p.Met367Ile | |
| XM_006716314.2:c.1095G>T | XP_006716377.1:p.Met365Ile | |
| XM_011544443.2:c.1467G>T | XP_011542745.1:p.Met489Ile | |
| XM_011544445.2:c.1461G>T | XP_011542747.1:p.Met487Ile | |
| XM_011544446.2:c.1467G>T | XP_011542748.1:p.Met489Ile | |
| XM_011544447.2:c.1461G>T | XP_011542749.1:p.Met487Ile | |
| XM_011544450.2:c.1194G>T | XP_011542752.1:p.Met398Ile | |
| XM_017013219.1:c.1455G>T | XP_016868708.1:p.Met485Ile | |
| XM_017013220.1:c.1455G>T | XP_016868709.1:p.Met485Ile | |
| XM_017013221.1:c.1368G>T | XP_016868710.1:p.Met456Ile | |
| XM_017013222.2:c.1362G>T | XP_016868711.1:p.Met454Ile | |
| XM_017013224.2:c.1356G>T | XP_016868713.1:p.Met452Ile | |
| XM_017013225.2:c.1356G>T | XP_016868714.1:p.Met452Ile | |
| XM_017013226.1:c.1194G>T | XP_016868715.1:p.Met398Ile | |
| XM_017013227.1:c.1188G>T | XP_016868716.1:p.Met396Ile | |
| XM_017013229.2:c.396G>T | XP_016868718.1:p.Met132Ile | |
| XM_017013230.1:c.396G>T | XP_016868719.1:p.Met132Ile | |
| XM_024447097.1:c.1344G>T | XP_024302865.1:p.Met448Ile | |
| XR_001745495.1:n.1616G>T | ||
| XR_001745496.1:n.1616G>T | ||
| NM_001174063.2:c.1362G>T | NP_001167534.1:p.Met454Ile | |
| NM_001174064.2:c.1338G>T | NP_001167535.1:p.Met446Ile | |
| NM_001174065.2:c.1362G>T | NP_001167536.1:p.Met454Ile | |
| NM_001174066.2:c.1101G>T | NP_001167537.1:p.Met367Ile | |
| NM_001354368.2:c.1089G>T | NP_001341297.1:p.Met363Ile | |
| NM_015850.4:c.1362G>T | NP_056934.2:p.Met454Ile | |
| NM_023105.3:c.1101G>T | NP_075593.1:p.Met367Ile | |
| NM_023106.3:c.1095G>T | NP_075594.1:p.Met365Ile | |
| NM_023110.3:c.1368G>T MANE Select | NP_075598.2:p.Met456Ile | |
| NM_001174067.2:c.1461G>T | NP_001167538.1:p.Met487Ile | |
| NM_001354367.2:c.1362G>T | NP_001341296.1:p.Met454Ile | |
| NM_001354369.2:c.1356G>T | NP_001341298.1:p.Met452Ile | |
| NM_001354370.2:c.1095G>T | NP_001341299.1:p.Met365Ile |