Linked Data
ClinVar Variation Id:
66028
ClinVar RCV Id:
RCV000056271
dbSNP Id:
rs397515461
ExAC:
8:133645077 G / A
gnomAD v2:
8-133645077-G-A
gnomAD v3:
8-132632831-G-A
gnomAD v4:
8-132632831-G-A
PubMed:
PMID:23891469
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132632831G>A , CM000670.2:g.132632831G>A | GRCh38 |
| NC_000008.10:g.133645077G>A , CM000670.1:g.133645077G>A | GRCh37 |
| NC_000008.9:g.133714259G>A | NCBI36 |
| NG_033068.1:g.47787C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620350.5:c.562C>T MANE Select | ENSP00000484634.1:p.Gln188Ter | |
| ENST00000250173.5:c.562C>T | ENSP00000250173.2:p.Gln188Ter | |
| ENST00000518642.5:c.562C>T | ENSP00000428610.1:p.Gln188Ter | |
| ENST00000519595.5:c.562C>T | ENSP00000429791.1:p.Gln188Ter | |
| ENST00000520446.5:n.528+5104C>T | ||
| ENST00000523503.1:n.415+5104C>T | ||
| ENST00000618342.1:c.562C>T | ENSP00000484802.1:p.Gln188Ter | |
| ENST00000620350.4:c.562C>T | ENSP00000484634.1:p.Gln188Ter | |
| NM_012472.4:c.562C>T | NP_036604.2:p.Gln188Ter | |
| NR_073525.1:n.686C>T | ||
| XM_006716538.2:c.580C>T | XP_006716601.2:p.Gln194Ter | |
| XM_011516950.1:c.580C>T | XP_011515252.1:p.Gln194Ter | |
| XM_011516951.1:c.580C>T | XP_011515253.1:p.Gln194Ter | |
| XM_011516952.1:c.316C>T | XP_011515254.1:p.Gln106Ter | |
| XM_011516953.1:c.202C>T | XP_011515255.1:p.Gln68Ter | |
| XM_011516954.1:c.202C>T | XP_011515256.1:p.Gln68Ter | |
| XR_428377.2:n.705C>T | ||
| NM_001321961.1:c.562C>T | NP_001308890.1:p.Gln188Ter | |
| NM_001321962.1:c.316C>T | NP_001308891.1:p.Gln106Ter | |
| NM_001321963.1:c.202C>T | NP_001308892.1:p.Gln68Ter | |
| NM_001321964.1:c.202C>T | NP_001308893.1:p.Gln68Ter | |
| NM_001321965.1:c.202C>T | NP_001308894.1:p.Gln68Ter | |
| NM_001321966.1:c.202C>T | NP_001308895.1:p.Gln68Ter | |
| NM_012472.5:c.562C>T | NP_036604.2:p.Gln188Ter | |
| NR_073525.2:n.686C>T | ||
| NR_135905.1:n.866+5104C>T | ||
| NR_135906.1:n.307+5104C>T | ||
| NR_135907.1:n.553+5104C>T | ||
| NR_135908.1:n.307+5104C>T | ||
| NR_135909.1:n.671+5104C>T | ||
| NR_135910.1:n.978+5104C>T | ||
| NR_135911.1:n.1057+5104C>T | ||
| NR_135912.1:n.1616+5104C>T | ||
| NR_135913.1:n.1303+5104C>T | ||
| XM_006716538.3:c.580C>T | XP_006716601.2:p.Gln194Ter | |
| XM_011516950.2:c.580C>T | XP_011515252.1:p.Gln194Ter | |
| XM_017013296.1:c.460C>T | XP_016868785.1:p.Gln154Ter | |
| XM_017013297.1:c.202C>T | XP_016868786.1:p.Gln68Ter | |
| XM_017013298.1:c.202C>T | XP_016868787.1:p.Gln68Ter | |
| NM_012472.6:c.562C>T MANE Select | NP_036604.2:p.Gln188Ter | |
| NM_001321961.2:c.562C>T | NP_001308890.1:p.Gln188Ter | |
| NM_001321962.2:c.316C>T | NP_001308891.1:p.Gln106Ter | |
| NM_001321963.2:c.202C>T | NP_001308892.1:p.Gln68Ter | |
| NM_001321964.2:c.202C>T | NP_001308893.1:p.Gln68Ter | |
| NM_001321965.2:c.202C>T | NP_001308894.1:p.Gln68Ter | |
| NM_001321966.2:c.202C>T | NP_001308895.1:p.Gln68Ter | |
| NR_073525.3:n.614C>T | ||
| NR_135905.2:n.794+5104C>T | ||
| NR_135906.2:n.235+5104C>T | ||
| NR_135907.2:n.481+5104C>T | ||
| NR_135908.2:n.235+5104C>T | ||
| NR_135909.2:n.691+5104C>T | ||
| NR_135910.2:n.1041+5104C>T | ||
| NR_135911.2:n.1161+5104C>T | ||
| NR_135912.2:n.1720+5104C>T | ||
| NR_135913.2:n.1407+5104C>T |