Linked Data
ClinVar Variation Id:
4356
ClinVar RCV Id:
RCV000004604
dbSNP Id:
rs119476044
gnomAD v4:
1-231370598-C-T
PubMed:
PMID:17579185
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.231370598C>T , CM000663.2:g.231370598C>T | GRCh38 |
| NC_000001.10:g.231506344C>T , CM000663.1:g.231506344C>T | GRCh37 |
| NC_000001.9:g.229572967C>T | NCBI36 |
| NG_015865.1:g.59447G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366641.4:c.1112G>A MANE Select | ENSP00000355601.3:p.Arg371His | |
| ENST00000476717.2:n.389G>A | ||
| ENST00000653198.1:n.654G>A | ||
| ENST00000653908.1:c.151-2962G>A | ENSP00000499669.1:n.151-2962G>A | |
| ENST00000654803.1:c.334G>A | ||
| ENST00000658954.1:c.486G>A | ||
| ENST00000662216.1:c.251G>A | ENSP00000499467.1:p.Arg84His | |
| ENST00000663780.1:n.212G>A | ||
| ENST00000667629.1:c.316-2962G>A | ENSP00000499629.1:n.316-2962G>A | |
| ENST00000670301.1:c.230-4123G>A | ||
| ENST00000366641.3:c.1112G>A | ENSP00000355601.3:p.Arg371His | |
| ENST00000476717.1:n.389G>A | ||
| NM_022051.2:c.1112G>A | NP_071334.1:p.Arg371His | |
| XM_005273166.3:c.1112G>A | XP_005273223.1:p.Arg371His | |
| XM_005273167.3:c.1012-2962G>A | XP_005273224.1:n.1012-2962G>A | |
| XM_005273166.5:c.1112G>A | XP_005273223.1:p.Arg371His | |
| XM_005273167.5:c.1012-2962G>A | XP_005273224.1:n.1012-2962G>A | |
| XM_024447734.1:c.1012-2962G>A | XP_024303502.1:n.1012-2962G>A | |
| NM_001377260.1:c.1112G>A | NP_001364189.1:p.Arg371His | |
| NM_001377261.1:c.1012-2962G>A | NP_001364190.1:n.1012-2962G>A | |
| NM_022051.3:c.1112G>A MANE Select | NP_071334.1:p.Arg371His |