Linked Data
ClinVar Variation Id:
213535
dbSNP Id:
rs199505265
ExAC:
20:10627646 G / A
gnomAD v2:
20-10627646-G-A
gnomAD v3:
20-10646998-G-A
gnomAD v4:
20-10646998-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10646998G>A , CM000682.2:g.10646998G>A | GRCh38 |
| NC_000020.10:g.10627646G>A , CM000682.1:g.10627646G>A | GRCh37 |
| NC_000020.9:g.10575646G>A | NCBI36 |
| NG_007496.1:g.32049C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000254958.10:c.1826C>T MANE Select | ENSP00000254958.4:p.Ser609Leu | |
| ENST00000617965.2:n.2415C>T | ||
| ENST00000254958.9:c.1826C>T | ENSP00000254958.4:p.Ser609Leu | |
| ENST00000423891.6:n.1692C>T | ||
| ENST00000612857.1:n.315C>T | ||
| ENST00000613518.1:c.175C>T | ||
| NM_000214.2:c.1826C>T | NP_000205.1:p.Ser609Leu | |
| NM_000214.3:c.1826C>T MANE Select | NP_000205.1:p.Ser609Leu |