Linked Data
ClinVar Variation Id:
207480
ClinVar RCV Id:
RCV000189665
dbSNP Id:
rs201659924
ExAC:
X:47466432 C / T
gnomAD v2:
X-47466432-C-T
gnomAD v3:
X-47607033-C-T
gnomAD v4:
X-47607033-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47607033C>T , CM000685.2:g.47607033C>T | GRCh38 |
| NC_000023.10:g.47466432C>T , CM000685.1:g.47466432C>T | GRCh37 |
| NC_000023.9:g.47351376C>T | NCBI36 |
| NG_008437.1:g.17825G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295987.13:c.439G>A MANE Select | ENSP00000295987.7:p.Glu147Lys | |
| ENST00000340666.5:c.439G>A | ENSP00000343206.4:p.Glu147Lys | |
| ENST00000639776.1:c.98G>A | ||
| ENST00000295987.11:c.439G>A | ENSP00000295987.7:p.Glu147Lys | |
| ENST00000340666.4:c.439G>A | ENSP00000343206.4:p.Glu147Lys | |
| NM_006950.3:c.439G>A MANE Select | NP_008881.2:p.Glu147Lys | |
| NM_133499.2:c.439G>A | NP_598006.1:p.Glu147Lys |