Linked Data
dbSNP Id:
rs613062
gnomAD v2:
1-55295003-A-G
gnomAD v3:
1-54829330-A-G
gnomAD v4:
1-54829330-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54829330A>G , CM000663.2:g.54829330A>G | GRCh38 |
| NC_000001.10:g.55295003A>G , CM000663.1:g.55295003A>G | GRCh37 |
| NC_000001.9:g.55067591A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371273.4:c.1184+12208A>G MANE Select | ENSP00000360320.3:n.1184+12208A>G | |
| ENST00000358193.7:c.1184+12208A>G | ENSP00000350924.3:n.1184+12208A>G | |
| ENST00000371273.3:c.1184+12208A>G | ENSP00000360320.3:n.1184+12208A>G | |
| NM_001110533.1:c.1184+12208A>G | NP_001104003.1:n.1184+12208A>G | |
| NM_152607.2:c.1184+12208A>G | NP_689820.2:n.1184+12208A>G | |
| XM_011540842.1:c.1246+4401A>G | XP_011539144.1:n.1246+4401A>G | |
| XM_017000481.1:c.1185-7916A>G | XP_016855970.1:n.1185-7916A>G | |
| XR_001737006.1:n.1238+12208A>G | ||
| XR_001737007.1:n.1238+12208A>G | ||
| NM_152607.3:c.1184+12208A>G | NP_689820.2:n.1184+12208A>G | |
| NM_001110533.2:c.1184+12208A>G MANE Select | NP_001104003.1:n.1184+12208A>G |