Linked Data
ClinVar Variation Id:
1940943
ClinVar RCV Id:
RCV002639600
dbSNP Id:
rs138390086
ExAC:
15:41223901 G / C
gnomAD v2:
15-41223901-G-C
gnomAD v3:
15-40931703-G-C
gnomAD v4:
15-40931703-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40931703G>C , CM000677.2:g.40931703G>C | GRCh38 |
| NC_000015.9:g.41223901G>C , CM000677.1:g.41223901G>C | GRCh37 |
| NC_000015.8:g.39011193G>C | NCBI36 |
| NG_046974.1:g.7371G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249749.7:c.595G>C MANE Select | ENSP00000249749.5:p.Val199Leu | |
| ENST00000249749.6:c.595G>C | ENSP00000249749.5:p.Val199Leu | |
| ENST00000559440.1:n.824G>C | ||
| NM_019074.3:c.595G>C | NP_061947.1:p.Val199Leu | |
| NM_019074.4:c.595G>C MANE Select | NP_061947.1:p.Val199Leu |