Linked Data
dbSNP Id:
rs12249377
gnomAD v2:
10-92592956-C-A
gnomAD v3:
10-90833199-C-A
gnomAD v4:
10-90833199-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.90833199C>A , CM000672.2:g.90833199C>A | GRCh38 |
| NC_000010.10:g.92592956C>A , CM000672.1:g.92592956C>A | GRCh37 |
| NC_000010.9:g.92582936C>A | NCBI36 |
| NG_029218.1:g.29716G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336152.8:c.539+23934G>T MANE Select | ENSP00000337949.3:n.539+23934G>T | |
| ENST00000277874.10:c.539+23934G>T | ENSP00000277874.6:n.539+23934G>T | |
| ENST00000336152.7:c.539+23934G>T | ENSP00000337949.3:n.539+23934G>T | |
| ENST00000371719.2:c.539+23934G>T | ENSP00000360784.2:n.539+23934G>T | |
| NM_000872.4:c.539+23934G>T | NP_000863.1:n.539+23934G>T | |
| NM_019859.3:c.539+23934G>T | NP_062873.1:n.539+23934G>T | |
| NM_019860.3:c.539+23934G>T | NP_062874.1:n.539+23934G>T | |
| NM_019859.4:c.539+23934G>T MANE Select | NP_062873.1:n.539+23934G>T | |
| NM_000872.5:c.539+23934G>T | NP_000863.1:n.539+23934G>T | |
| NM_019860.4:c.539+23934G>T | NP_062874.1:n.539+23934G>T |