Linked Data
dbSNP Id:
rs144831504
ExAC:
1:207785219 C / T
gnomAD v2:
1-207785219-C-T
gnomAD v3:
1-207611874-C-T
gnomAD v4:
1-207611874-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.207611874C>T , CM000663.2:g.207611874C>T | GRCh38 |
| NC_000001.10:g.207785219C>T , CM000663.1:g.207785219C>T | GRCh37 |
| NC_000001.9:g.205851842C>T | NCBI36 |
| NG_007481.1:g.120747C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367049.9:c.6472+21C>T MANE Select | ENSP00000356016.4:n.6472+21C>T | |
| ENST00000367051.6:c.5122+21C>T | ENSP00000356018.1:n.5122+21C>T | |
| ENST00000367052.6:c.5122+21C>T | ENSP00000356019.1:n.5122+21C>T | |
| ENST00000367053.6:c.5122+21C>T | ENSP00000356020.1:n.5122+21C>T | |
| ENST00000400960.7:c.5122+21C>T | ENSP00000383744.2:n.5122+21C>T | |
| ENST00000367049.8:c.6472+21C>T | ENSP00000356016.4:n.6472+21C>T | |
| ENST00000367051.5:c.5122+21C>T | ENSP00000356018.1:n.5122+21C>T | |
| ENST00000367052.5:c.5122+21C>T | ENSP00000356019.1:n.5122+21C>T | |
| ENST00000367053.5:c.5122+21C>T | ENSP00000356020.1:n.5122+21C>T | |
| ENST00000400960.6:c.5122+21C>T | ENSP00000383744.2:n.5122+21C>T | |
| ENST00000529814.1:c.1180-4701C>T | ||
| NM_000573.3:c.5122+21C>T | NP_000564.2:n.5122+21C>T | |
| NM_000651.4:c.6472+21C>T | NP_000642.3:n.6472+21C>T | |
| XM_006711166.2:c.6487+21C>T | XP_006711229.1:n.6487+21C>T | |
| XM_011509205.1:c.6487+21C>T | XP_011507507.1:n.6487+21C>T | |
| NM_000651.5:c.6472+21C>T | NP_000642.3:n.6472+21C>T | |
| XM_024453287.1:c.5137+21C>T | XP_024309055.1:n.5137+21C>T | |
| NM_000573.4:c.5122+21C>T | NP_000564.2:n.5122+21C>T | |
| NM_000651.6:c.6472+21C>T MANE Select | NP_000642.3:n.6472+21C>T |