Linked Data
ClinVar Variation Id:
1775490
ClinVar RCV Id:
RCV002405643
dbSNP Id:
rs1187384595
gnomAD v3:
X-54495277-A-G
gnomAD v4:
X-54495277-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.54495277A>G , CM000685.2:g.54495277A>G | GRCh38 |
| NC_000023.10:g.54521710A>G , CM000685.1:g.54521710A>G | GRCh37 |
| NC_000023.9:g.54538435A>G | NCBI36 |
| NG_008054.1:g.5890T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375135.4:c.156T>C MANE Select | ENSP00000364277.3:p.Leu52= | |
| ENST00000375135.3:c.156T>C | ENSP00000364277.3:p.Leu52= | |
| NM_004463.2:c.156T>C | NP_004454.2:p.Leu52= | |
| NM_004463.3:c.156T>C MANE Select | NP_004454.2:p.Leu52= |