Linked Data
ClinVar Variation Id:
811395
ClinVar RCV Id:
RCV001001231
dbSNP Id:
rs782504844
ExAC:
X:154132229 C / G
gnomAD v2:
X-154132229-C-G
gnomAD v3:
X-154903954-C-G
gnomAD v4:
X-154903954-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154903954C>G , CM000685.2:g.154903954C>G | GRCh38 |
| NC_000023.10:g.154132229C>G , CM000685.1:g.154132229C>G | GRCh37 |
| NC_000023.9:g.153785423C>G | NCBI36 |
| NG_011403.1:g.123770G>C | |
| NG_011403.2:g.123770G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.5950G>C MANE Select | ENSP00000353393.4:p.Val1984Leu | |
| ENST00000360256.8:c.5950G>C | ENSP00000353393.4:p.Val1984Leu | |
| NM_000132.3:c.5950G>C | NP_000123.1:p.Val1984Leu | |
| XM_011531126.1:c.5845G>C | XP_011529428.1:p.Val1949Leu | |
| NM_000132.4:c.5950G>C MANE Select | NP_000123.1:p.Val1984Leu |