Linked Data
ClinVar Variation Id:
1566907
ClinVar RCV Id:
RCV002214570
dbSNP Id:
rs146308514
ExAC:
1:211093334 G / A
gnomAD v2:
1-211093334-G-A
gnomAD v3:
1-210919992-G-A
gnomAD v4:
1-210919992-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.210919992G>A , CM000663.2:g.210919992G>A | GRCh38 |
| NC_000001.10:g.211093334G>A , CM000663.1:g.211093334G>A | GRCh37 |
| NC_000001.9:g.209159957G>A | NCBI36 |
| NG_029777.1:g.219124C>T | |
| NG_029777.2:g.219124C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271751.10:c.1110C>T MANE Select | ENSP00000271751.4:p.His370= | |
| ENST00000367007.5:c.1029C>T | ENSP00000355974.5:p.His343= | |
| ENST00000638357.1:c.443C>T | ||
| ENST00000638498.1:c.1110C>T | ENSP00000490983.1:p.His370= | |
| ENST00000638960.1:c.1029C>T | ENSP00000492302.1:p.His343= | |
| ENST00000638983.1:c.952-58798C>T | ENSP00000492641.1:n.952-58798C>T | |
| ENST00000639385.1:n.478C>T | ||
| ENST00000639602.1:c.900C>T | ENSP00000492303.1:p.His300= | |
| ENST00000639754.1:n.1313C>T | ||
| ENST00000639952.1:c.1029C>T | ENSP00000492697.1:p.His343= | |
| ENST00000640044.1:c.311-115826C>T | ENSP00000491434.1:n.311-115826C>T | |
| ENST00000640243.1:c.951+98872C>T | ENSP00000492803.1:n.951+98872C>T | |
| ENST00000640522.1:c.1032+98791C>T | ENSP00000491019.1:n.1032+98791C>T | |
| ENST00000640528.1:c.1029C>T | ENSP00000491725.1:p.His343= | |
| ENST00000640566.1:c.311-144448C>T | ENSP00000491302.1:n.311-144448C>T | |
| ENST00000640710.1:c.1029C>T | ENSP00000492513.1:p.His343= | |
| ENST00000640890.1:n.1131C>T | ||
| ENST00000271751.8:c.1110C>T | ENSP00000271751.4:p.His370= | |
| ENST00000367007.4:c.1029C>T | ENSP00000355974.4:p.His343= | |
| NM_002238.3:c.1029C>T | NP_002229.1:p.His343= | |
| NM_172362.2:c.1110C>T | NP_758872.1:p.His370= | |
| XM_011509514.1:c.-67C>T | XP_011507816.1:n.-67C>T | |
| XM_017001246.1:c.-67C>T | XP_016856735.1:n.-67C>T | |
| NM_172362.3:c.1110C>T MANE Select | NP_758872.1:p.His370= | |
| NM_002238.4:c.1029C>T | NP_002229.1:p.His343= |