Linked Data
ClinVar Variation Id:
2026925
ClinVar RCV Id:
RCV002858516
dbSNP Id:
rs782063057
ExAC:
X:148564550 C / T
gnomAD v2:
X-148564550-C-T
gnomAD v4:
X-149483019-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149483019C>T , CM000685.2:g.149483019C>T | GRCh38 |
| NC_000023.10:g.148564550C>T , CM000685.1:g.148564550C>T | GRCh37 |
| NC_000023.9:g.148372455C>T | NCBI36 |
| NG_011900.3:g.27316G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.1380G>A MANE Select | ENSP00000339801.6:p.Leu460= | |
| ENST00000651111.1:c.747G>A | ENSP00000498395.1:p.Leu249= | |
| ENST00000340855.10:c.1380G>A | ENSP00000339801.6:p.Leu460= | |
| ENST00000422081.6:c.747G>A | ENSP00000477056.1:p.Leu249= | |
| NM_000202.6:c.1380G>A | NP_000193.1:p.Leu460= | |
| NM_001166550.2:c.1110G>A | NP_001160022.1:p.Leu370= | |
| NM_000202.7:c.1380G>A | NP_000193.1:p.Leu460= | |
| NM_001166550.3:c.1110G>A | NP_001160022.1:p.Leu370= | |
| NM_000202.8:c.1380G>A MANE Select | NP_000193.1:p.Leu460= | |
| NM_001166550.4:c.1110G>A | NP_001160022.1:p.Leu370= |