Linked Data
ClinVar Variation Id:
375379
ClinVar RCV Id:
RCV000416451
dbSNP Id:
rs1057519440
gnomAD v4:
X-51744647-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.51744647G>A , CM000685.2:g.51744647G>A | GRCh38 |
| NC_000023.10:g.51487743G>A , CM000685.1:g.51487743G>A | GRCh37 |
| NC_000023.9:g.51504483G>A | NCBI36 |
| NG_016857.1:g.6263G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340438.6:c.1021G>A MANE Select | ENSP00000341247.4:p.Val341Ile | |
| ENST00000340438.5:c.1021G>A | ENSP00000341247.4:p.Val341Ile | |
| NM_018094.4:c.1021G>A | NP_060564.2:p.Val341Ile | |
| NM_018094.5:c.1021G>A MANE Select | NP_060564.2:p.Val341Ile |