Linked Data
dbSNP Id:
rs11611208
gnomAD v2:
12-20758613-G-A
gnomAD v3:
12-20605679-G-A
gnomAD v4:
12-20605679-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.20605679G>A , CM000674.2:g.20605679G>A | GRCh38 |
| NC_000012.11:g.20758613G>A , CM000674.1:g.20758613G>A | GRCh37 |
| NC_000012.10:g.20649880G>A | NCBI36 |
| NG_030033.1:g.241435G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000359062.4:c.1012-7764G>A MANE Select | ENSP00000351957.3:n.1012-7764G>A | |
| ENST00000359062.3:c.1012-7764G>A | ENSP00000351957.3:n.1012-7764G>A | |
| ENST00000544307.1:n.309-7764G>A | ||
| NM_000921.4:c.1012-7764G>A | NP_000912.3:n.1012-7764G>A | |
| NM_001244683.1:c.46-7764G>A | NP_001231612.1:n.46-7764G>A | |
| XM_006719086.2:c.1012-7764G>A | XP_006719149.2:n.1012-7764G>A | |
| XM_017019420.1:c.1012-7764G>A | XP_016874909.1:n.1012-7764G>A | |
| XM_017019421.2:c.49-7764G>A | XP_016874910.1:n.49-7764G>A | |
| NM_000921.5:c.1012-7764G>A MANE Select | NP_000912.3:n.1012-7764G>A | |
| NM_001244683.2:c.46-7764G>A | NP_001231612.1:n.46-7764G>A | |
| NM_001378407.1:c.1012-7764G>A | NP_001365336.1:n.1012-7764G>A | |
| NM_001378408.1:c.49-7764G>A | NP_001365337.1:n.49-7764G>A | |
| NM_001378409.1:c.46-7764G>A | NP_001365338.1:n.46-7764G>A |