Linked Data
ClinVar Variation Id:
2346815
ClinVar RCV Id:
RCV004182324
dbSNP Id:
rs149160066
ExAC:
3:53892824 G / A
gnomAD v2:
3-53892824-G-A
gnomAD v3:
3-53858797-G-A
gnomAD v4:
3-53858797-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53858797G>A , CM000665.2:g.53858797G>A | GRCh38 |
| NC_000003.11:g.53892824G>A , CM000665.1:g.53892824G>A | GRCh37 |
| NC_000003.10:g.53867864G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288167.8:c.826G>A MANE Select | ENSP00000288167.3:p.Val276Ile | |
| ENST00000288167.7:c.826G>A | ENSP00000288167.3:p.Val276Ile | |
| ENST00000475124.1:n.1859G>A | ||
| ENST00000494338.1:c.778G>A | ENSP00000418638.1:p.Val260Ile | |
| NM_018725.3:c.826G>A | NP_061195.2:p.Val276Ile | |
| XM_005265310.3:c.913G>A | XP_005265367.1:p.Val305Ile | |
| XM_005265311.3:c.865G>A | XP_005265368.1:p.Val289Ile | |
| XM_005265312.3:c.778G>A | XP_005265369.1:p.Val260Ile | |
| XM_011533940.1:c.562G>A | XP_011532242.1:p.Val188Ile | |
| XM_011533941.1:c.913G>A | XP_011532243.1:p.Val305Ile | |
| XR_245147.3:n.1127G>A | ||
| XR_940467.1:n.992G>A | ||
| XR_940468.1:n.905G>A | ||
| XM_005265310.5:c.913G>A | XP_005265367.1:p.Val305Ile | |
| XM_005265311.5:c.865G>A | XP_005265368.1:p.Val289Ile | |
| XM_005265312.5:c.778G>A | XP_005265369.1:p.Val260Ile | |
| XM_011533941.3:c.913G>A | XP_011532243.1:p.Val305Ile | |
| XM_017006804.2:c.562G>A | XP_016862293.1:p.Val188Ile | |
| XM_017006805.2:c.514G>A | XP_016862294.1:p.Val172Ile | |
| XM_017006806.2:c.475G>A | XP_016862295.1:p.Val159Ile | |
| XM_017006807.2:c.826G>A | XP_016862296.1:p.Val276Ile | |
| XM_024453634.1:c.*32G>A | XP_024309402.1:n.*32G>A | |
| XM_024453635.1:c.*32G>A | XP_024309403.1:n.*32G>A | |
| XM_024453636.1:c.*32G>A | XP_024309404.1:n.*32G>A | |
| NM_018725.4:c.826G>A MANE Select | NP_061195.2:p.Val276Ile |