Linked Data
dbSNP Id:
rs746224942
ExAC:
6:31322264 G / T
gnomAD v2:
6-31322264-G-T
gnomAD v3:
6-31354487-G-T
gnomAD v4:
6-31354487-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31354487G>T , CM000668.2:g.31354487G>T | GRCh38 |
| NC_000006.11:g.31322264G>T , CM000668.1:g.31322264G>T | GRCh37 |
| NC_000006.10:g.31430243G>T | NCBI36 |
| NG_023187.1:g.7726C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.3132C>A | ||
| ENST00000481849.6:n.3092C>A | ||
| ENST00000497377.6:n.2999C>A | ||
| ENST00000640094.2:c.968C>A | ENSP00000491275.2:p.Ala323Asp | |
| ENST00000696558.1:c.1154C>A | ENSP00000512716.1:n.1154C>A | |
| ENST00000696559.1:c.1085C>A | ENSP00000512717.1:p.Ala362Asp | |
| ENST00000696560.1:c.1085C>A | ENSP00000512718.1:p.Ala362Asp | |
| ENST00000696561.1:c.1085C>A | ENSP00000512719.1:p.Ala362Asp | |
| ENST00000696562.1:c.1085C>A | ENSP00000512720.1:p.Ala362Asp | |
| ENST00000412585.7:c.1085C>A MANE Select | ENSP00000399168.2:p.Ala362Asp | |
| ENST00000412585.6:c.1085C>A | ENSP00000399168.2:p.Ala362Asp | |
| ENST00000481849.5:n.320C>A | ||
| ENST00000497377.5:n.484C>A | ||
| NM_005514.6:c.1085C>A | NP_005505.2:p.Ala362Asp | |
| XM_011514556.1:c.1118C>A | XP_011512858.1:p.Ala373Asp | |
| XM_011514557.1:c.968C>A | XP_011512859.1:p.Ala323Asp | |
| XR_926175.1:n.1524C>A | ||
| NM_005514.7:c.1085C>A | NP_005505.2:p.Ala362Asp | |
| NM_005514.8:c.1085C>A MANE Select | NP_005505.2:p.Ala362Asp |