Linked Data
dbSNP Id:
rs11048526
gnomAD v2:
12-26602264-G-A
gnomAD v3:
12-26449331-G-A
gnomAD v4:
12-26449331-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.26449331G>A , CM000674.2:g.26449331G>A | GRCh38 |
| NC_000012.11:g.26602264G>A , CM000674.1:g.26602264G>A | GRCh37 |
| NC_000012.10:g.26493531G>A | NCBI36 |
| NG_042142.1:g.388868C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381340.8:c.6343-5681C>T MANE Select | ENSP00000370744.3:n.6343-5681C>T | |
| ENST00000381340.7:c.6343-5681C>T | ENSP00000370744.3:n.6343-5681C>T | |
| ENST00000451599.6:c.1171-5681C>T | ENSP00000408287.2:n.1171-5681C>T | |
| NM_002223.2:c.6343-5681C>T | NP_002214.2:n.6343-5681C>T | |
| NM_002223.3:c.6343-5681C>T | NP_002214.2:n.6343-5681C>T | |
| XM_011520645.1:c.5791-5681C>T | XP_011518947.1:n.5791-5681C>T | |
| XM_011520646.1:c.5410-5681C>T | XP_011518948.1:n.5410-5681C>T | |
| XM_017019266.1:c.6403-5681C>T | XP_016874755.1:n.6403-5681C>T | |
| XM_017019267.1:c.6337-5681C>T | XP_016874756.1:n.6337-5681C>T | |
| XR_001748686.2:n.6819-5681C>T | ||
| NM_002223.4:c.6343-5681C>T MANE Select | NP_002214.2:n.6343-5681C>T |