Linked Data
dbSNP Id:
rs747536207
ExAC:
6:31237770 C / T
gnomAD v2:
6-31237770-C-T
gnomAD v4:
6-31269993-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269993C>T , CM000668.2:g.31269993C>T | GRCh38 |
| NC_000006.11:g.31237770C>T , CM000668.1:g.31237770C>T | GRCh37 |
| NC_000006.10:g.31345749C>T | NCBI36 |
| NG_029422.2:g.7139G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.988G>A MANE Select | ENSP00000365402.5:p.Ala330Thr | |
| ENST00000376228.9:c.988G>A | ENSP00000365402.5:p.Ala330Thr | |
| ENST00000376237.8:c.*575G>A | ENSP00000365412.4:n.*575G>A | |
| ENST00000383329.7:c.988G>A | ENSP00000372819.3:p.Ala330Thr | |
| ENST00000470363.5:n.306G>A | ||
| ENST00000487245.5:n.1347G>A | ||
| NM_002117.5:c.988G>A | NP_002108.4:p.Ala330Thr | |
| NM_002117.6:c.988G>A MANE Select | NP_002108.4:p.Ala330Thr |