Linked Data
ClinVar Variation Id:
2693430
ClinVar RCV Id:
RCV003509854
dbSNP Id:
rs782272275
ExAC:
X:148564399 G / A
gnomAD v2:
X-148564399-G-A
gnomAD v4:
X-149482868-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149482868G>A , CM000685.2:g.149482868G>A | GRCh38 |
| NC_000023.10:g.148564399G>A , CM000685.1:g.148564399G>A | GRCh37 |
| NC_000023.9:g.148372304G>A | NCBI36 |
| NG_011900.3:g.27467C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.1531C>T MANE Select | ENSP00000339801.6:p.Leu511= | |
| ENST00000651111.1:c.898C>T | ENSP00000498395.1:p.Leu300= | |
| ENST00000340855.10:c.1531C>T | ENSP00000339801.6:p.Leu511= | |
| ENST00000422081.6:c.898C>T | ENSP00000477056.1:p.Leu300= | |
| NM_000202.6:c.1531C>T | NP_000193.1:p.Leu511= | |
| NM_001166550.2:c.1261C>T | NP_001160022.1:p.Leu421= | |
| NM_000202.7:c.1531C>T | NP_000193.1:p.Leu511= | |
| NM_001166550.3:c.1261C>T | NP_001160022.1:p.Leu421= | |
| NM_000202.8:c.1531C>T MANE Select | NP_000193.1:p.Leu511= | |
| NM_001166550.4:c.1261C>T | NP_001160022.1:p.Leu421= |