Linked Data
dbSNP Id:
rs752842439
ExAC:
20:44576425 G / T
gnomAD v2:
20-44576425-G-T
gnomAD v4:
20-45947786-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45947786G>T , CM000682.2:g.45947786G>T | GRCh38 |
| NC_000020.10:g.44576425G>T , CM000682.1:g.44576425G>T | GRCh37 |
| NC_000020.9:g.44009832G>T | NCBI36 |
| NG_029772.1:g.29409C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372409.8:c.*31G>T MANE Select | ENSP00000361486.3:n.*31G>T | |
| ENST00000372409.7:c.*31G>T | ENSP00000361486.3:n.*31G>T | |
| ENST00000479348.2:c.1087G>T | ||
| NM_022104.3:c.*31G>T | NP_071387.1:n.*31G>T | |
| XM_011528980.1:c.*31G>T | XP_011527282.1:n.*31G>T | |
| XM_011528981.1:c.*31G>T | XP_011527283.1:n.*31G>T | |
| XM_011528982.1:c.*31G>T | XP_011527284.1:n.*31G>T | |
| XM_011528980.3:c.*31G>T | XP_011527282.1:n.*31G>T | |
| XM_011528981.3:c.*31G>T | XP_011527283.1:n.*31G>T | |
| XM_017028013.2:c.*31G>T | XP_016883502.1:n.*31G>T | |
| XM_017028014.2:c.*31G>T | XP_016883503.1:n.*31G>T | |
| NM_022104.4:c.*31G>T MANE Select | NP_071387.1:n.*31G>T |