Linked Data
dbSNP Id:
rs2239574
gnomAD v2:
21-48019811-C-T
gnomAD v3:
21-46599898-C-T
gnomAD v4:
21-46599898-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46599898C>T , CM000683.2:g.46599898C>T | GRCh38 |
| NC_000021.8:g.48019811C>T , CM000683.1:g.48019811C>T | GRCh37 |
| NC_000021.7:g.46844239C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000291700.9:c.139-395G>A MANE Select | ENSP00000291700.4:n.139-395G>A | |
| ENST00000291700.8:c.139-395G>A | ENSP00000291700.4:n.139-395G>A | |
| ENST00000367071.4:c.232+384G>A | ENSP00000356038.4:n.232+384G>A | |
| ENST00000397648.1:c.139-395G>A | ENSP00000380769.1:n.139-395G>A | |
| NM_006272.2:c.139-395G>A | NP_006263.1:n.139-395G>A | |
| XM_017028424.2:c.139-395G>A | XP_016883913.1:n.139-395G>A | |
| NM_006272.3:c.139-395G>A MANE Select | NP_006263.1:n.139-395G>A |