Linked Data
dbSNP Id:
rs761999595
ExAC:
2:85780187 T / C
gnomAD v2:
2-85780187-T-C
gnomAD v4:
2-85553064-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85553064T>C , CM000664.2:g.85553064T>C | GRCh38 |
| NC_000002.11:g.85780187T>C , CM000664.1:g.85780187T>C | GRCh37 |
| NC_000002.10:g.85633698T>C | NCBI36 |
| NG_011811.2:g.13471A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000473665.2:n.5206A>G | ||
| ENST00000482662.2:n.3613A>G | ||
| ENST00000685865.1:n.1565A>G | ||
| ENST00000687250.1:n.1265A>G | ||
| ENST00000687995.1:n.1514A>G | ||
| ENST00000688205.1:c.*755A>G | ENSP00000509673.1:n.*755A>G | |
| ENST00000688788.1:n.1401A>G | ||
| ENST00000689276.1:c.1093A>G | ENSP00000510012.1:p.Asn365Asp | |
| ENST00000689576.1:c.1162A>G | ENSP00000508712.1:p.Asn388Asp | |
| ENST00000690108.1:c.*818A>G | ENSP00000510617.1:n.*818A>G | |
| ENST00000690468.1:c.883A>G | ENSP00000509078.1:p.Asn295Asp | |
| ENST00000690595.1:c.487A>G | ENSP00000508979.1:p.Asn163Asp | |
| ENST00000691348.1:c.991A>G | ENSP00000509369.1:p.Asn331Asp | |
| ENST00000691410.1:c.*739A>G | ENSP00000508479.1:n.*739A>G | |
| ENST00000693287.1:c.478A>G | ENSP00000510264.1:p.Asn160Asp | |
| ENST00000693681.1:c.475A>G | ENSP00000510789.1:p.Asn159Asp | |
| ENST00000233838.9:c.1162A>G MANE Select | ENSP00000233838.3:p.Asn388Asp | |
| ENST00000233838.8:c.1162A>G | ENSP00000233838.3:p.Asn388Asp | |
| ENST00000430215.7:c.991A>G | ENSP00000408045.3:p.Asn331Asp | |
| ENST00000465637.5:n.179-5060A>G | ||
| ENST00000473665.1:n.655A>G | ||
| ENST00000482662.1:n.579A>G | ||
| NM_000821.5:c.1162A>G | NP_000812.2:p.Asn388Asp | |
| NM_000821.6:c.1162A>G | NP_000812.2:p.Asn388Asp | |
| NM_001142269.2:c.991A>G | NP_001135741.1:p.Asn331Asp | |
| NM_001142269.3:c.991A>G | NP_001135741.1:p.Asn331Asp | |
| XM_005264259.3:c.1162A>G | XP_005264316.1:p.Asn388Asp | |
| XM_011532764.1:c.340A>G | XP_011531066.1:p.Asn114Asp | |
| XM_011532765.1:c.340A>G | XP_011531067.1:p.Asn114Asp | |
| XR_939677.1:n.1227A>G | ||
| XM_005264259.5:c.1162A>G | XP_005264316.1:p.Asn388Asp | |
| XM_011532764.3:c.340A>G | XP_011531066.1:p.Asn114Asp | |
| XM_011532765.3:c.340A>G | XP_011531067.1:p.Asn114Asp | |
| XM_017003803.2:c.991A>G | XP_016859292.1:p.Asn331Asp | |
| XR_001738703.2:n.1227A>G | ||
| NM_000821.7:c.1162A>G MANE Select | NP_000812.2:p.Asn388Asp | |
| NM_001142269.4:c.991A>G | NP_001135741.1:p.Asn331Asp |