Linked Data
ClinVar Variation Id:
215893
dbSNP Id:
rs199959383
ExAC:
2:63631633 C / T
gnomAD v2:
2-63631633-C-T
gnomAD v3:
2-63404498-C-T
gnomAD v4:
2-63404498-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.63404498C>T , CM000664.2:g.63404498C>T | GRCh38 |
| NC_000002.11:g.63631633C>T , CM000664.1:g.63631633C>T | GRCh37 |
| NC_000002.10:g.63485137C>T | NCBI36 |
| NG_028144.1:g.189235G>A | |
| NG_028144.2:g.441328G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272321.12:c.985G>A MANE Select | ENSP00000272321.7:p.Val329Met | |
| ENST00000272321.11:c.985G>A | ENSP00000272321.7:p.Val329Met | |
| ENST00000398544.7:c.508G>A | ENSP00000381552.3:p.Val170Met | |
| ENST00000409120.5:c.409G>A | ENSP00000386769.1:p.Val137Met | |
| ENST00000409199.5:c.409G>A | ENSP00000386592.1:p.Val137Met | |
| ENST00000409354.6:c.346G>A | ENSP00000386795.2:p.Val116Met | |
| ENST00000409562.7:c.985G>A | ENSP00000387222.3:p.Val329Met | |
| ENST00000409835.5:n.1232G>A | ||
| ENST00000417238.5:c.*1096G>A | ENSP00000411429.1:n.*1096G>A | |
| ENST00000493315.1:n.687G>A | ||
| NM_001042692.2:c.508G>A | NP_001036157.1:p.Val170Met | |
| NM_015910.5:c.985G>A | NP_056994.3:p.Val329Met | |
| NR_122106.1:n.632G>A | ||
| XM_005264348.2:c.985G>A | XP_005264405.1:p.Val329Met | |
| XM_011532881.1:c.913G>A | XP_011531183.1:p.Val305Met | |
| XM_011532882.1:c.886G>A | XP_011531184.1:p.Val296Met | |
| XM_011532883.1:c.985G>A | XP_011531185.1:p.Val329Met | |
| XM_011532884.1:c.985G>A | XP_011531186.1:p.Val329Met | |
| XM_011532885.1:c.985G>A | XP_011531187.1:p.Val329Met | |
| XM_011532886.1:c.985G>A | XP_011531188.1:p.Val329Met | |
| XM_011532887.1:c.985G>A | XP_011531189.1:p.Val329Met | |
| XM_011532888.1:c.985G>A | XP_011531190.1:p.Val329Met | |
| XM_011532889.1:c.985G>A | XP_011531191.1:p.Val329Met | |
| XM_011532890.1:c.985G>A | XP_011531192.1:p.Val329Met | |
| XM_011532891.1:c.913G>A | XP_011531193.1:p.Val305Met | |
| XR_244934.1:n.1232G>A | ||
| XR_244935.1:n.1232G>A | ||
| XR_939686.1:n.1232G>A | ||
| NM_001042692.3:c.508G>A | NP_001036157.1:p.Val170Met | |
| NM_001354044.1:c.913G>A | NP_001340973.1:p.Val305Met | |
| NM_001354045.1:c.985G>A | NP_001340974.1:p.Val329Met | |
| NM_015910.6:c.985G>A | NP_056994.3:p.Val329Met | |
| NR_122106.2:n.632G>A | ||
| NR_148704.1:n.1765G>A | ||
| NR_148705.1:n.1513G>A | ||
| XM_005264348.4:c.985G>A | XP_005264405.1:p.Val329Met | |
| XM_011532881.3:c.913G>A | XP_011531183.1:p.Val305Met | |
| XM_011532884.3:c.985G>A | XP_011531186.1:p.Val329Met | |
| XM_011532887.3:c.985G>A | XP_011531189.1:p.Val329Met | |
| XM_011532890.3:c.985G>A | XP_011531192.1:p.Val329Met | |
| XM_011532891.2:c.913G>A | XP_011531193.1:p.Val305Met | |
| XM_017004253.2:c.985G>A | XP_016859742.1:p.Val329Met | |
| XM_017004254.2:c.985G>A | XP_016859743.1:p.Val329Met | |
| XR_001738759.2:n.1447G>A | ||
| XR_001738760.2:n.1447G>A | ||
| XR_002959303.1:n.1447G>A | ||
| XR_244934.3:n.1447G>A | ||
| NM_015910.7:c.985G>A MANE Select | NP_056994.3:p.Val329Met | |
| NM_001354044.2:c.913G>A | NP_001340973.1:p.Val305Met | |
| NM_001354045.2:c.985G>A | NP_001340974.1:p.Val329Met | |
| NR_148704.2:n.1443G>A | ||
| NR_148705.2:n.1191G>A |