Linked Data
ClinVar Variation Id:
337270
dbSNP Id:
rs146085955
ExAC:
2:85781366 G / A
gnomAD v2:
2-85781366-G-A
gnomAD v3:
2-85554243-G-A
gnomAD v4:
2-85554243-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85554243G>A , CM000664.2:g.85554243G>A | GRCh38 |
| NC_000002.11:g.85781366G>A , CM000664.1:g.85781366G>A | GRCh37 |
| NC_000002.10:g.85634877G>A | NCBI36 |
| NG_011811.2:g.12292C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000473665.2:n.4833C>T | ||
| ENST00000482662.2:n.2595C>T | ||
| ENST00000685865.1:n.1192C>T | ||
| ENST00000687250.1:n.892C>T | ||
| ENST00000687995.1:n.1141C>T | ||
| ENST00000688205.1:c.*382C>T | ENSP00000509673.1:n.*382C>T | |
| ENST00000688788.1:n.1129-746C>T | ||
| ENST00000689276.1:c.720C>T | ENSP00000510012.1:p.Asp240= | |
| ENST00000689576.1:c.789C>T | ENSP00000508712.1:p.Asp263= | |
| ENST00000690108.1:c.*445C>T | ENSP00000510617.1:n.*445C>T | |
| ENST00000690468.1:c.510C>T | ENSP00000509078.1:p.Asp170= | |
| ENST00000690595.1:c.215-746C>T | ENSP00000508979.1:n.215-746C>T | |
| ENST00000691348.1:c.618C>T | ENSP00000509369.1:p.Asp206= | |
| ENST00000691410.1:c.*366C>T | ENSP00000508479.1:n.*366C>T | |
| ENST00000693287.1:c.105C>T | ENSP00000510264.1:p.Asp35= | |
| ENST00000693681.1:c.203-746C>T | ENSP00000510789.1:n.203-746C>T | |
| ENST00000233838.9:c.789C>T MANE Select | ENSP00000233838.3:p.Asp263= | |
| ENST00000233838.8:c.789C>T | ENSP00000233838.3:p.Asp263= | |
| ENST00000430215.7:c.618C>T | ENSP00000408045.3:p.Asp206= | |
| ENST00000465637.5:n.178+4763C>T | ||
| ENST00000473665.1:n.282C>T | ||
| NM_000821.5:c.789C>T | NP_000812.2:p.Asp263= | |
| NM_000821.6:c.789C>T | NP_000812.2:p.Asp263= | |
| NM_001142269.2:c.618C>T | NP_001135741.1:p.Asp206= | |
| NM_001142269.3:c.618C>T | NP_001135741.1:p.Asp206= | |
| XM_005264259.3:c.789C>T | XP_005264316.1:p.Asp263= | |
| XM_011532764.1:c.68-746C>T | XP_011531066.1:n.68-746C>T | |
| XM_011532765.1:c.68-746C>T | XP_011531067.1:n.68-746C>T | |
| XR_939677.1:n.854C>T | ||
| XM_005264259.5:c.789C>T | XP_005264316.1:p.Asp263= | |
| XM_011532764.3:c.68-746C>T | XP_011531066.1:n.68-746C>T | |
| XM_011532765.3:c.68-746C>T | XP_011531067.1:n.68-746C>T | |
| XM_017003803.2:c.618C>T | XP_016859292.1:p.Asp206= | |
| XR_001738703.2:n.854C>T | ||
| NM_000821.7:c.789C>T MANE Select | NP_000812.2:p.Asp263= | |
| NM_001142269.4:c.618C>T | NP_001135741.1:p.Asp206= |