Linked Data
ClinVar Variation Id:
1413387
ClinVar RCV Id:
RCV001925904
dbSNP Id:
rs200143566
ExAC:
2:209010499 G / A
gnomAD v2:
2-209010499-G-A
gnomAD v3:
2-208145775-G-A
gnomAD v4:
2-208145775-G-A
COSMIC:
COSM4674836
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208145775G>A , CM000664.2:g.208145775G>A | GRCh38 |
| NC_000002.11:g.209010499G>A , CM000664.1:g.209010499G>A | GRCh37 |
| NC_000002.10:g.208718744G>A | NCBI36 |
| NG_028158.1:g.5379C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260988.5:c.251C>T MANE Select | ENSP00000260988.4:p.Pro84Leu | |
| ENST00000260988.4:c.251C>T | ENSP00000260988.4:p.Pro84Leu | |
| NM_005210.3:c.251C>T | NP_005201.2:p.Pro84Leu | |
| NR_038437.1:n.221+8596G>A | ||
| XM_017003402.1:c.251C>T | XP_016858891.1:p.Pro84Leu | |
| NM_005210.4:c.251C>T MANE Select | NP_005201.2:p.Pro84Leu |