Linked Data
dbSNP Id:
rs603424
gnomAD v2:
10-102075479-G-A
gnomAD v3:
10-100315722-G-A
gnomAD v4:
10-100315722-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100315722G>A , CM000672.2:g.100315722G>A | GRCh38 |
| NC_000010.10:g.102075479G>A , CM000672.1:g.102075479G>A | GRCh37 |
| NC_000010.9:g.102065469G>A | NCBI36 |
| NG_047099.1:g.35803C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318222.4:c.349+13489C>T MANE Select | ENSP00000325296.3:n.349+13489C>T | |
| ENST00000318222.3:c.349+13489C>T | ENSP00000325296.3:n.349+13489C>T | |
| ENST00000465680.2:c.104+14147C>T | ||
| ENST00000528248.1:c.208+13489C>T | ||
| ENST00000532547.1:c.*93+13489C>T | ENSP00000434224.1:n.*93+13489C>T | |
| NM_001253837.1:c.208+13489C>T | NP_001240766.1:n.208+13489C>T | |
| NM_016112.2:c.349+13489C>T | NP_057196.2:n.349+13489C>T | |
| XM_011540321.1:c.349+13489C>T | XP_011538623.1:n.349+13489C>T | |
| XM_011540322.1:c.349+13489C>T | XP_011538624.1:n.349+13489C>T | |
| XM_011540323.1:c.59-16004C>T | XP_011538625.1:n.59-16004C>T | |
| XM_011540324.1:c.59-16004C>T | XP_011538626.1:n.59-16004C>T | |
| XM_011540325.1:c.-11-16004C>T | XP_011538627.1:n.-11-16004C>T | |
| XR_945861.1:n.622+13489C>T | ||
| XM_011540323.3:c.59-16004C>T | XP_011538625.1:n.59-16004C>T | |
| XM_011540325.3:c.-11-16004C>T | XP_011538627.1:n.-11-16004C>T | |
| XM_017016875.2:c.59-16004C>T | XP_016872364.1:n.59-16004C>T | |
| XM_017016876.1:c.101-16004C>T | XP_016872365.1:n.101-16004C>T | |
| NM_016112.3:c.349+13489C>T MANE Select | NP_057196.2:n.349+13489C>T | |
| NM_001253837.2:c.208+13489C>T | NP_001240766.1:n.208+13489C>T |