Linked Data
dbSNP Id:
rs104894717
ExAC:
19:42364887 G / A
gnomAD v2:
19-42364887-G-A
gnomAD v3:
19-41860817-G-A
gnomAD v4:
19-41860817-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41860817G>A , CM000681.2:g.41860817G>A | GRCh38 |
| NC_000019.9:g.42364887G>A , CM000681.1:g.42364887G>A | GRCh37 |
| NC_000019.8:g.47056727G>A | NCBI36 |
| NG_007080.2:g.5900G>A | |
| NG_007080.3:g.5900G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000598261.2:c.43G>A | ENSP00000469798.1:p.Val15Ile | |
| ENST00000598742.6:c.43G>A MANE Select | ENSP00000470972.1:p.Val15Ile | |
| ENST00000600467.6:c.43G>A | ENSP00000469228.2:p.Val15Ile | |
| ENST00000221975.6:c.-180G>A | ENSP00000221975.2:n.-180G>A | |
| ENST00000593863.5:c.43G>A | ENSP00000470004.1:p.Val15Ile | |
| ENST00000598261.1:c.43G>A | ENSP00000469798.1:p.Val15Ile | |
| ENST00000598399.1:c.40G>A | ENSP00000472660.1:p.Val14Ile | |
| ENST00000598466.5:n.78G>A | ||
| ENST00000598742.5:c.43G>A | ENSP00000470972.1:p.Val15Ile | |
| ENST00000600467.5:c.43G>A | ENSP00000469228.1:p.Val15Ile | |
| ENST00000601492.5:c.43G>A | ENSP00000471621.1:p.Val15Ile | |
| NM_001022.3:c.43G>A | NP_001013.1:p.Val15Ile | |
| NM_001321483.1:c.43G>A | NP_001308412.1:p.Val15Ile | |
| NM_001321484.1:c.43G>A | NP_001308413.1:p.Val15Ile | |
| NM_001321485.1:c.43G>A | NP_001308414.1:p.Val15Ile | |
| XM_017027113.2:c.43G>A | XP_016882602.1:p.Val15Ile | |
| NM_001022.4:c.43G>A MANE Select | NP_001013.1:p.Val15Ile | |
| NM_001321483.2:c.43G>A | NP_001308412.1:p.Val15Ile | |
| NM_001321484.2:c.43G>A | NP_001308413.1:p.Val15Ile | |
| NM_001321485.2:c.43G>A | NP_001308414.1:p.Val15Ile |