Linked Data
dbSNP Id:
rs6542772
gnomAD v2:
2-109174615-C-T
gnomAD v3:
2-108558159-C-T
gnomAD v4:
2-108558159-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108558159C>T , CM000664.2:g.108558159C>T | GRCh38 |
| NC_000002.11:g.109174615C>T , CM000664.1:g.109174615C>T | GRCh37 |
| NC_000002.10:g.108541047C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000544547.6:c.32+23565C>T MANE Select | ENSP00000437912.1:n.32+23565C>T | |
| ENST00000695516.1:c.59+24351C>T | ENSP00000511979.1:n.59+24351C>T | |
| ENST00000695517.1:c.32+23565C>T | ENSP00000511980.1:n.32+23565C>T | |
| ENST00000428064.5:c.32+23565C>T | ENSP00000390862.1:n.32+23565C>T | |
| ENST00000544547.5:c.32+23565C>T | ENSP00000437912.1:n.32+23565C>T | |
| NM_001193483.2:c.32+23565C>T | NP_001180412.1:n.32+23565C>T | |
| XM_005263949.1:c.32+23565C>T | XP_005264006.1:n.32+23565C>T | |
| XM_017004092.1:c.-84+23565C>T | XP_016859581.1:n.-84+23565C>T | |
| NM_001193483.3:c.32+23565C>T MANE Select | NP_001180412.1:n.32+23565C>T | |
| NM_001371495.1:c.32+23565C>T | NP_001358424.1:n.32+23565C>T | |
| NM_001371496.1:c.59+24351C>T | NP_001358425.1:n.59+24351C>T | |
| NM_001394896.1:c.32+23565C>T | NP_001381825.1:n.32+23565C>T | |
| NM_001394898.1:c.59+24351C>T | NP_001381827.1:n.59+24351C>T |