Linked Data
ClinVar Variation Id:
456021
dbSNP Id:
rs150546646
ExAC:
17:76133356 G / A
gnomAD v2:
17-76133356-G-A
gnomAD v3:
17-78137275-G-A
gnomAD v4:
17-78137275-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78137275G>A , CM000679.2:g.78137275G>A | GRCh38 |
| NC_000017.10:g.76133356G>A , CM000679.1:g.76133356G>A | GRCh37 |
| NC_000017.9:g.73644951G>A | NCBI36 |
| NG_007879.1:g.133C>T , LRG_118:g.133C>T | |
| NG_007881.1:g.11498G>A , LRG_119:g.11498G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000590184.2:n.871G>A | ||
| ENST00000698566.1:n.830G>A | ||
| ENST00000698567.1:n.830G>A | ||
| ENST00000698568.1:n.751G>A | ||
| ENST00000698569.1:n.625G>A | ||
| ENST00000698570.1:n.472G>A | ||
| ENST00000698571.1:n.190-442G>A | ||
| ENST00000698572.1:n.253G>A | ||
| ENST00000318430.10:c.1168G>A MANE Select | ENSP00000325561.4:p.Val390Ile | |
| ENST00000318430.9:c.1168G>A | ENSP00000325561.4:p.Val390Ile | |
| ENST00000589691.1:c.499G>A | ENSP00000467482.1:p.Val167Ile | |
| ENST00000590184.1:n.102G>A | ||
| ENST00000591983.5:n.183G>A | ||
| NM_152468.4:c.1168G>A , LRG_119t1:c.1168G>A | NP_689681.2:p.Val390Ile | |
| XM_011524402.1:c.1180G>A | XP_011522704.1:p.Val394Ile | |
| XM_011524403.1:c.1168G>A | XP_011522705.1:p.Val390Ile | |
| XM_011524404.1:c.1180G>A | XP_011522706.1:p.Val394Ile | |
| XM_011524405.1:c.1066G>A | XP_011522707.1:p.Val356Ile | |
| XM_011524406.1:c.1147-442G>A | XP_011522708.1:n.1147-442G>A | |
| XM_011524407.1:c.511G>A | XP_011522709.1:p.Val171Ile | |
| XM_011524408.1:c.511G>A | XP_011522710.1:p.Val171Ile | |
| XM_011524410.1:c.1187G>A | XP_011522712.1:p.Arg396His | |
| XR_934395.1:n.3489G>A | ||
| XR_934397.1:n.3489G>A | ||
| XR_934398.1:n.3496G>A | ||
| XR_934400.1:n.3449-442G>A | ||
| XM_017024242.2:c.319G>A | XP_016879731.1:p.Val107Ile | |
| XM_017024243.1:c.499G>A | XP_016879732.1:p.Val167Ile | |
| XM_024450617.1:c.1180G>A | XP_024306385.1:p.Val394Ile | |
| XM_024450618.1:c.1180G>A | XP_024306386.1:p.Val394Ile | |
| XM_024450619.1:c.1168G>A | XP_024306387.1:p.Val390Ile | |
| XM_024450620.1:c.1180G>A | XP_024306388.1:p.Val394Ile | |
| XM_024450621.1:c.1180G>A | XP_024306389.1:p.Val394Ile | |
| XM_024450622.1:c.1180G>A | XP_024306390.1:p.Val394Ile | |
| XM_024450623.1:c.1147-442G>A | XP_024306391.1:n.1147-442G>A | |
| XM_024450624.1:c.1180G>A | XP_024306392.1:p.Val394Ile | |
| XM_024450626.1:c.1187G>A | XP_024306394.1:p.Arg396His | |
| XR_002957973.1:n.1261G>A | ||
| XR_002957974.1:n.1261G>A | ||
| XR_002957975.1:n.1249G>A | ||
| XR_002957976.1:n.1268G>A | ||
| XR_002957977.1:n.1256G>A | ||
| XR_002957978.1:n.1268G>A | ||
| XR_002957979.1:n.1221-442G>A | ||
| NM_152468.5:c.1168G>A MANE Select | NP_689681.2:p.Val390Ile |