Linked Data
dbSNP Id:
rs374429951
ExAC:
1:207753548 A / G
gnomAD v2:
1-207753548-A-G
gnomAD v3:
1-207580203-A-G
gnomAD v4:
1-207580203-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.207580203A>G , CM000663.2:g.207580203A>G | GRCh38 |
| NC_000001.10:g.207753548A>G , CM000663.1:g.207753548A>G | GRCh37 |
| NC_000001.9:g.205820171A>G | NCBI36 |
| NG_007481.1:g.89076A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367049.9:c.4937-37A>G MANE Select | ENSP00000356016.4:n.4937-37A>G | |
| ENST00000367051.6:c.3587-37A>G | ENSP00000356018.1:n.3587-37A>G | |
| ENST00000367052.6:c.3587-37A>G | ENSP00000356019.1:n.3587-37A>G | |
| ENST00000367053.6:c.3587-37A>G | ENSP00000356020.1:n.3587-37A>G | |
| ENST00000400960.7:c.3587-37A>G | ENSP00000383744.2:n.3587-37A>G | |
| ENST00000367049.8:c.4937-37A>G | ENSP00000356016.4:n.4937-37A>G | |
| ENST00000367051.5:c.3587-37A>G | ENSP00000356018.1:n.3587-37A>G | |
| ENST00000367052.5:c.3587-37A>G | ENSP00000356019.1:n.3587-37A>G | |
| ENST00000367053.5:c.3587-37A>G | ENSP00000356020.1:n.3587-37A>G | |
| ENST00000400960.6:c.3587-37A>G | ENSP00000383744.2:n.3587-37A>G | |
| ENST00000529814.1:c.1179+14280A>G | ||
| ENST00000534202.5:c.*702-37A>G | ENSP00000436139.2:n.*702-37A>G | |
| NM_000573.3:c.3587-37A>G | NP_000564.2:n.3587-37A>G | |
| NM_000651.4:c.4937-37A>G | NP_000642.3:n.4937-37A>G | |
| XM_006711166.2:c.4952-37A>G | XP_006711229.1:n.4952-37A>G | |
| XM_011509205.1:c.4952-37A>G | XP_011507507.1:n.4952-37A>G | |
| NM_000651.5:c.4937-37A>G | NP_000642.3:n.4937-37A>G | |
| XM_024453287.1:c.3602-37A>G | XP_024309055.1:n.3602-37A>G | |
| NM_000573.4:c.3587-37A>G | NP_000564.2:n.3587-37A>G | |
| NM_000651.6:c.4937-37A>G MANE Select | NP_000642.3:n.4937-37A>G |