Linked Data
ClinVar Variation Id:
30302
ClinVar RCV Id:
RCV001014205
dbSNP Id:
rs387906848
ExAC:
3:52436624 G / A
gnomAD v4:
3-52402608-G-A
COSMIC:
COSM96358
PubMed:
PMID:21874000
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52402608G>A , CM000665.2:g.52402608G>A | GRCh38 |
| NC_000003.11:g.52436624G>A , CM000665.1:g.52436624G>A | GRCh37 |
| NC_000003.10:g.52411664G>A | NCBI36 |
| NG_031859.1:g.12386C>T , LRG_529:g.12386C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000460680.6:c.2050C>T MANE Select | ENSP00000417132.1:p.Gln684Ter | |
| ENST00000296288.9:c.1996C>T | ENSP00000296288.5:p.Gln666Ter | |
| ENST00000460680.5:c.2050C>T | ENSP00000417132.1:p.Gln684Ter | |
| ENST00000466093.1:n.723C>T | ||
| ENST00000469613.5:c.249C>T | ||
| ENST00000478368.1:c.622C>T | ENSP00000420647.1:p.Gln208Ter | |
| NM_004656.3:c.2050C>T | NP_004647.1:p.Gln684Ter | |
| XM_011534149.1:c.2119C>T | XP_011532451.1:p.Gln707Ter | |
| XM_011534150.1:c.2074C>T | XP_011532452.1:p.Gln692Ter | |
| XM_011534151.1:c.2065C>T | XP_011532453.1:p.Gln689Ter | |
| XM_011534152.1:c.2005C>T | XP_011532454.1:p.Gln669Ter | |
| XM_011534149.3:c.2119C>T | XP_011532451.1:p.Gln707Ter | |
| XM_011534150.3:c.2074C>T | XP_011532452.1:p.Gln692Ter | |
| XM_011534151.3:c.2065C>T | XP_011532453.1:p.Gln689Ter | |
| XM_011534152.2:c.2005C>T | XP_011532454.1:p.Gln669Ter | |
| XM_017007303.2:c.1996C>T | XP_016862792.1:p.Gln666Ter | |
| NM_004656.4:c.2050C>T MANE Select | NP_004647.1:p.Gln684Ter |