Linked Data
ClinVar Variation Id:
2297186
ClinVar RCV Id:
RCV004143285
dbSNP Id:
rs931590237
gnomAD v2:
1-204159895-G-A
gnomAD v4:
1-204190767-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204190767G>A , CM000663.2:g.204190767G>A | GRCh38 |
| NC_000001.10:g.204159895G>A , CM000663.1:g.204159895G>A | GRCh37 |
| NC_000001.9:g.202426518G>A | NCBI36 |
| NG_032151.1:g.10725C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367194.5:c.134C>T MANE Select | ENSP00000356162.4:p.Ala45Val | |
| ENST00000367194.4:c.134C>T | ENSP00000356162.4:p.Ala45Val | |
| ENST00000625357.1:c.134C>T | ENSP00000485957.1:p.Ala45Val | |
| NM_002256.3:c.134C>T | NP_002247.3:p.Ala45Val | |
| XM_011509525.1:c.134C>T | XP_011507827.1:p.Ala45Val | |
| NM_002256.4:c.134C>T MANE Select | NP_002247.3:p.Ala45Val |