Linked Data
ClinVar Variation Id:
2295937
ClinVar RCV Id:
RCV004143037
dbSNP Id:
rs370378462
ExAC:
9:135554817 C / T
gnomAD v2:
9-135554817-C-T
gnomAD v4:
9-132679430-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132679430C>T , CM000671.2:g.132679430C>T | GRCh38 |
| NC_000009.11:g.135554817C>T , CM000671.1:g.135554817C>T | GRCh37 |
| NC_000009.10:g.134544638C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372146.5:c.1811C>T MANE Select | ENSP00000361219.4:p.Ser604Leu | |
| ENST00000372146.4:c.1811C>T | ENSP00000361219.4:p.Ser604Leu | |
| NM_012204.2:c.1811C>T | NP_036336.2:p.Ser604Leu | |
| XR_929875.1:n.2375C>T | ||
| NM_012204.3:c.1811C>T | NP_036336.2:p.Ser604Leu | |
| NR_133925.1:n.2375C>T | ||
| XM_017015318.1:c.420+1391C>T | XP_016870807.1:n.420+1391C>T | |
| NM_012204.4:c.1811C>T MANE Select | NP_036336.2:p.Ser604Leu |