Linked Data
ClinVar Variation Id:
39795
ClinVar RCV Id:
RCV000033017
dbSNP Id:
rs141945265
ExAC:
8:133645065 G / A
gnomAD v2:
8-133645065-G-A
gnomAD v3:
8-132632819-G-A
gnomAD v4:
8-132632819-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132632819G>A , CM000670.2:g.132632819G>A | GRCh38 |
| NC_000008.10:g.133645065G>A , CM000670.1:g.133645065G>A | GRCh37 |
| NC_000008.9:g.133714247G>A | NCBI36 |
| NG_033068.1:g.47799C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000620350.5:c.574C>T MANE Select | ENSP00000484634.1:p.Gln192Ter | |
| ENST00000250173.5:c.574C>T | ENSP00000250173.2:p.Gln192Ter | |
| ENST00000518642.5:c.574C>T | ENSP00000428610.1:p.Gln192Ter | |
| ENST00000519595.5:c.574C>T | ENSP00000429791.1:p.Gln192Ter | |
| ENST00000520446.5:n.528+5116C>T | ||
| ENST00000523503.1:n.415+5116C>T | ||
| ENST00000618342.1:c.574C>T | ENSP00000484802.1:p.Gln192Ter | |
| ENST00000620350.4:c.574C>T | ENSP00000484634.1:p.Gln192Ter | |
| NM_012472.4:c.574C>T | NP_036604.2:p.Gln192Ter | |
| NR_073525.1:n.698C>T | ||
| XM_006716538.2:c.592C>T | XP_006716601.2:p.Gln198Ter | |
| XM_011516950.1:c.592C>T | XP_011515252.1:p.Gln198Ter | |
| XM_011516951.1:c.592C>T | XP_011515253.1:p.Gln198Ter | |
| XM_011516952.1:c.328C>T | XP_011515254.1:p.Gln110Ter | |
| XM_011516953.1:c.214C>T | XP_011515255.1:p.Gln72Ter | |
| XM_011516954.1:c.214C>T | XP_011515256.1:p.Gln72Ter | |
| XR_428377.2:n.717C>T | ||
| NM_001321961.1:c.574C>T | NP_001308890.1:p.Gln192Ter | |
| NM_001321962.1:c.328C>T | NP_001308891.1:p.Gln110Ter | |
| NM_001321963.1:c.214C>T | NP_001308892.1:p.Gln72Ter | |
| NM_001321964.1:c.214C>T | NP_001308893.1:p.Gln72Ter | |
| NM_001321965.1:c.214C>T | NP_001308894.1:p.Gln72Ter | |
| NM_001321966.1:c.214C>T | NP_001308895.1:p.Gln72Ter | |
| NM_012472.5:c.574C>T | NP_036604.2:p.Gln192Ter | |
| NR_073525.2:n.698C>T | ||
| NR_135905.1:n.866+5116C>T | ||
| NR_135906.1:n.307+5116C>T | ||
| NR_135907.1:n.553+5116C>T | ||
| NR_135908.1:n.307+5116C>T | ||
| NR_135909.1:n.671+5116C>T | ||
| NR_135910.1:n.978+5116C>T | ||
| NR_135911.1:n.1057+5116C>T | ||
| NR_135912.1:n.1616+5116C>T | ||
| NR_135913.1:n.1303+5116C>T | ||
| XM_006716538.3:c.592C>T | XP_006716601.2:p.Gln198Ter | |
| XM_011516950.2:c.592C>T | XP_011515252.1:p.Gln198Ter | |
| XM_017013296.1:c.472C>T | XP_016868785.1:p.Gln158Ter | |
| XM_017013297.1:c.214C>T | XP_016868786.1:p.Gln72Ter | |
| XM_017013298.1:c.214C>T | XP_016868787.1:p.Gln72Ter | |
| NM_012472.6:c.574C>T MANE Select | NP_036604.2:p.Gln192Ter | |
| NM_001321961.2:c.574C>T | NP_001308890.1:p.Gln192Ter | |
| NM_001321962.2:c.328C>T | NP_001308891.1:p.Gln110Ter | |
| NM_001321963.2:c.214C>T | NP_001308892.1:p.Gln72Ter | |
| NM_001321964.2:c.214C>T | NP_001308893.1:p.Gln72Ter | |
| NM_001321965.2:c.214C>T | NP_001308894.1:p.Gln72Ter | |
| NM_001321966.2:c.214C>T | NP_001308895.1:p.Gln72Ter | |
| NR_073525.3:n.626C>T | ||
| NR_135905.2:n.794+5116C>T | ||
| NR_135906.2:n.235+5116C>T | ||
| NR_135907.2:n.481+5116C>T | ||
| NR_135908.2:n.235+5116C>T | ||
| NR_135909.2:n.691+5116C>T | ||
| NR_135910.2:n.1041+5116C>T | ||
| NR_135911.2:n.1161+5116C>T | ||
| NR_135912.2:n.1720+5116C>T | ||
| NR_135913.2:n.1407+5116C>T |