Linked Data
ClinVar Variation Id:
2074952
dbSNP Id:
rs1400904747
gnomAD v2:
15-73660493-C-T
gnomAD v4:
15-73368152-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73368152C>T , CM000677.2:g.73368152C>T | GRCh38 |
| NC_000015.9:g.73660493C>T , CM000677.1:g.73660493C>T | GRCh37 |
| NC_000015.8:g.71447546C>T | NCBI36 |
| NG_009063.1:g.6113G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.119G>A MANE Select | ENSP00000261917.3:p.Arg40His | |
| ENST00000261917.3:c.119G>A | ENSP00000261917.3:p.Arg40His | |
| NM_005477.2:c.119G>A | NP_005468.1:p.Arg40His | |
| NM_005477.3:c.119G>A MANE Select | NP_005468.1:p.Arg40His |