Linked Data
dbSNP Id:
rs183114141
ExAC:
7:43827617 G / A
gnomAD v2:
7-43827617-G-A
gnomAD v3:
7-43788018-G-A
gnomAD v4:
7-43788018-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.43788018G>A , CM000669.2:g.43788018G>A | GRCh38 |
| NC_000007.13:g.43827617G>A , CM000669.1:g.43827617G>A | GRCh37 |
| NC_000007.12:g.43794142G>A | NCBI36 |
| NG_031876.1:g.34346G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265523.9:c.127G>A MANE Select | ENSP00000265523.4:p.Val43Met | |
| ENST00000265523.8:c.127G>A | ENSP00000265523.4:p.Val43Met | |
| ENST00000402924.5:c.127G>A | ENSP00000385757.1:p.Val43Met | |
| ENST00000424330.1:c.127G>A | ENSP00000412005.1:p.Val43Met | |
| ENST00000453612.1:n.151G>A | ||
| NM_000712.3:c.127G>A | NP_000703.2:p.Val43Met | |
| NM_001253823.1:c.127G>A | NP_001240752.1:p.Val43Met | |
| XM_011515474.1:c.127G>A | XP_011513776.1:p.Val43Met | |
| XR_428136.2:n.265-2260C>T | ||
| XR_927212.1:n.265-2260C>T | ||
| XR_927213.1:n.265-2260C>T | ||
| XM_011515474.3:c.127G>A | XP_011513776.1:p.Val43Met | |
| XM_017012520.2:c.127G>A | XP_016868009.1:p.Val43Met | |
| XM_024446867.1:c.127G>A | XP_024302635.1:p.Val43Met | |
| XR_001745190.1:n.266-2260C>T | ||
| NM_000712.4:c.127G>A MANE Select | NP_000703.2:p.Val43Met | |
| NM_001253823.2:c.127G>A | NP_001240752.1:p.Val43Met |