Linked Data
ClinVar Variation Id:
355304
dbSNP Id:
rs141479751
ExAC:
6:129828658 G / A
gnomAD v2:
6-129828658-G-A
gnomAD v3:
6-129507513-G-A
gnomAD v4:
6-129507513-G-A
COSMIC:
COSM1212971
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129507513G>A , CM000668.2:g.129507513G>A | GRCh38 |
| NC_000006.11:g.129828658G>A , CM000668.1:g.129828658G>A | GRCh37 |
| NC_000006.10:g.129870351G>A | NCBI36 |
| NG_008678.1:g.629373G>A , LRG_409:g.629373G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000494137.2:c.793G>A | ENSP00000510626.1:p.Val265Ile | |
| ENST00000498257.6:c.793G>A | ENSP00000510533.1:p.Val265Ile | |
| ENST00000617695.5:c.8716G>A | ENSP00000481744.2:p.Val2906Ile | |
| ENST00000618192.5:c.8992G>A | ENSP00000480802.2:p.Val2998Ile | |
| ENST00000688198.1:n.1706G>A | ||
| ENST00000688799.1:c.793G>A | ENSP00000508458.1:p.Val265Ile | |
| ENST00000690858.1:n.1722G>A | ||
| ENST00000693461.1:n.1065G>A | ||
| ENST00000421865.3:c.8728G>A MANE Select | ENSP00000400365.2:p.Val2910Ile | |
| ENST00000421865.2:c.8728G>A | ENSP00000400365.2:p.Val2910Ile | |
| ENST00000617695.4:c.8716G>A | ENSP00000481744.1:p.Val2906Ile | |
| ENST00000618192.4:c.8725G>A | ENSP00000480802.1:p.Val2909Ile | |
| NM_000426.3:c.8728G>A , LRG_409t1:c.8728G>A | NP_000417.2:p.Val2910Ile | |
| NM_001079823.1:c.8716G>A | NP_001073291.1:p.Val2906Ile | |
| XM_005266981.2:c.8992G>A | XP_005267038.1:p.Val2998Ile | |
| XM_005266982.2:c.8980G>A | XP_005267039.1:p.Val2994Ile | |
| XM_011535820.1:c.8986G>A | XP_011534122.1:p.Val2996Ile | |
| XR_942984.1:n.1461-4722C>T | ||
| XR_942985.1:n.1325-4722C>T | ||
| XM_005266981.3:c.8992G>A | XP_005267038.1:p.Val2998Ile | |
| XM_005266982.3:c.8980G>A | XP_005267039.1:p.Val2994Ile | |
| XM_011535820.2:c.8986G>A | XP_011534122.1:p.Val2996Ile | |
| XM_017010851.2:c.8998G>A | XP_016866340.1:p.Val3000Ile | |
| XM_017010852.1:c.7123G>A | XP_016866341.1:p.Val2375Ile | |
| XR_001743859.1:n.3901-4722C>T | ||
| XR_001743860.1:n.1180-4722C>T | ||
| XR_001743861.1:n.1347-4722C>T | ||
| XR_001743863.1:n.883-4722C>T | ||
| XR_002956395.1:n.9132-4722C>T | ||
| XR_002956396.1:n.3127-4722C>T | ||
| NM_000426.4:c.8728G>A MANE Select | NP_000417.3:p.Val2910Ile | |
| NM_001079823.2:c.8716G>A | NP_001073291.2:p.Val2906Ile |