Linked Data
ClinVar Variation Id:
385583
dbSNP Id:
rs747257110
ExAC:
7:95799432 G / A
gnomAD v2:
7-95799432-G-A
gnomAD v3:
7-96170120-G-A
gnomAD v4:
7-96170120-G-A
COSMIC:
COSM39224
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.96170120G>A , CM000669.2:g.96170120G>A | GRCh38 |
| NC_000007.13:g.95799432G>A , CM000669.1:g.95799432G>A | GRCh37 |
| NC_000007.12:g.95637368G>A | NCBI36 |
| NG_012247.1:g.157028C>T | |
| NG_012247.2:g.157028C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265631.10:c.1236C>T MANE Select | ENSP00000265631.6:p.Asn412= | |
| ENST00000265631.9:c.1236C>T | ENSP00000265631.5:p.Asn412= | |
| ENST00000416240.6:c.1239C>T | ENSP00000400101.2:p.Asn413= | |
| ENST00000484495.5:n.389C>T | ||
| ENST00000490072.5:n.303C>T | ||
| ENST00000492869.1:n.357C>T | ||
| NM_001160210.1:c.1239C>T | NP_001153682.1:p.Asn413= | |
| NM_014251.2:c.1236C>T | NP_055066.1:p.Asn412= | |
| NR_027662.1:n.1311C>T | ||
| XM_006715831.2:c.1269C>T | XP_006715894.1:p.Asn423= | |
| XM_011515727.1:c.1269C>T | XP_011514029.1:p.Asn423= | |
| XM_011515728.1:c.384C>T | XP_011514030.1:p.Asn128= | |
| XM_006715831.4:c.1269C>T | XP_006715894.1:p.Asn423= | |
| XM_011515727.3:c.1269C>T | XP_011514029.1:p.Asn423= | |
| XM_017011663.1:c.1227C>T | XP_016867152.1:p.Asn409= | |
| XM_017011664.2:c.384C>T | XP_016867153.1:p.Asn128= | |
| XM_017011665.1:c.384C>T | XP_016867154.1:p.Asn128= | |
| XR_001744525.2:n.1407C>T | ||
| XR_002956405.1:n.2040C>T | ||
| NM_014251.3:c.1236C>T MANE Select | NP_055066.1:p.Asn412= | |
| NR_027662.2:n.1262C>T | ||
| NM_001160210.2:c.1239C>T | NP_001153682.1:p.Asn413= |