Linked Data
ClinVar Variation Id:
336765
dbSNP Id:
rs367727948
ExAC:
2:63631308 C / A
gnomAD v2:
2-63631308-C-A
gnomAD v3:
2-63404173-C-A
gnomAD v4:
2-63404173-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.63404173C>A , CM000664.2:g.63404173C>A | GRCh38 |
| NC_000002.11:g.63631308C>A , CM000664.1:g.63631308C>A | GRCh37 |
| NC_000002.10:g.63484812C>A | NCBI36 |
| NG_028144.1:g.189560G>T | |
| NG_028144.2:g.441653G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272321.12:c.1310G>T MANE Select | ENSP00000272321.7:p.Ser437Ile | |
| ENST00000272321.11:c.1310G>T | ENSP00000272321.7:p.Ser437Ile | |
| ENST00000398544.7:c.833G>T | ENSP00000381552.3:p.Ser278Ile | |
| ENST00000409120.5:c.734G>T | ENSP00000386769.1:p.Ser245Ile | |
| ENST00000409199.5:c.734G>T | ENSP00000386592.1:p.Ser245Ile | |
| ENST00000409354.6:c.671G>T | ENSP00000386795.2:p.Ser224Ile | |
| ENST00000409562.7:c.1310G>T | ENSP00000387222.3:p.Ser437Ile | |
| ENST00000409835.5:n.1557G>T | ||
| ENST00000417238.5:c.*1421G>T | ENSP00000411429.1:n.*1421G>T | |
| ENST00000493315.1:n.1012G>T | ||
| NM_001042692.2:c.833G>T | NP_001036157.1:p.Ser278Ile | |
| NM_015910.5:c.1310G>T | NP_056994.3:p.Ser437Ile | |
| NR_122106.1:n.957G>T | ||
| XM_005264348.2:c.1310G>T | XP_005264405.1:p.Ser437Ile | |
| XM_011532881.1:c.1238G>T | XP_011531183.1:p.Ser413Ile | |
| XM_011532882.1:c.1211G>T | XP_011531184.1:p.Ser404Ile | |
| XM_011532883.1:c.1310G>T | XP_011531185.1:p.Ser437Ile | |
| XM_011532884.1:c.1310G>T | XP_011531186.1:p.Ser437Ile | |
| XM_011532885.1:c.1310G>T | XP_011531187.1:p.Ser437Ile | |
| XM_011532886.1:c.1310G>T | XP_011531188.1:p.Ser437Ile | |
| XM_011532887.1:c.1310G>T | XP_011531189.1:p.Ser437Ile | |
| XM_011532888.1:c.1310G>T | XP_011531190.1:p.Ser437Ile | |
| XM_011532889.1:c.1310G>T | XP_011531191.1:p.Ser437Ile | |
| XM_011532890.1:c.1310G>T | XP_011531192.1:p.Ser437Ile | |
| XM_011532891.1:c.1238G>T | XP_011531193.1:p.Ser413Ile | |
| XR_244934.1:n.1557G>T | ||
| XR_244935.1:n.1557G>T | ||
| XR_939686.1:n.1557G>T | ||
| NM_001042692.3:c.833G>T | NP_001036157.1:p.Ser278Ile | |
| NM_001354044.1:c.1238G>T | NP_001340973.1:p.Ser413Ile | |
| NM_001354045.1:c.1310G>T | NP_001340974.1:p.Ser437Ile | |
| NM_015910.6:c.1310G>T | NP_056994.3:p.Ser437Ile | |
| NR_122106.2:n.957G>T | ||
| NR_148704.1:n.2090G>T | ||
| NR_148705.1:n.1838G>T | ||
| XM_005264348.4:c.1310G>T | XP_005264405.1:p.Ser437Ile | |
| XM_011532881.3:c.1238G>T | XP_011531183.1:p.Ser413Ile | |
| XM_011532884.3:c.1310G>T | XP_011531186.1:p.Ser437Ile | |
| XM_011532887.3:c.1310G>T | XP_011531189.1:p.Ser437Ile | |
| XM_011532890.3:c.1310G>T | XP_011531192.1:p.Ser437Ile | |
| XM_011532891.2:c.1238G>T | XP_011531193.1:p.Ser413Ile | |
| XM_017004253.2:c.1310G>T | XP_016859742.1:p.Ser437Ile | |
| XM_017004254.2:c.1310G>T | XP_016859743.1:p.Ser437Ile | |
| XR_001738759.2:n.1772G>T | ||
| XR_001738760.2:n.1772G>T | ||
| XR_002959303.1:n.1772G>T | ||
| XR_244934.3:n.1772G>T | ||
| NM_015910.7:c.1310G>T MANE Select | NP_056994.3:p.Ser437Ile | |
| NM_001354044.2:c.1238G>T | NP_001340973.1:p.Ser413Ile | |
| NM_001354045.2:c.1310G>T | NP_001340974.1:p.Ser437Ile | |
| NR_148704.2:n.1768G>T | ||
| NR_148705.2:n.1516G>T |