Linked Data
ClinVar Variation Id:
2749459
ClinVar RCV Id:
RCV003568431
dbSNP Id:
rs748967963
ExAC:
X:63411940 C / G
gnomAD v2:
X-63411940-C-G
gnomAD v4:
X-64192060-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.64192060C>G , CM000685.2:g.64192060C>G | GRCh38 |
| NC_000023.10:g.63411940C>G , CM000685.1:g.63411940C>G | GRCh37 |
| NC_000023.9:g.63328665C>G | NCBI36 |
| NG_021345.1:g.18685G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374869.8:c.1227G>C MANE Select | ENSP00000364003.4:p.Leu409= | |
| ENST00000330258.3:c.1227G>C | ENSP00000329117.3:p.Leu409= | |
| ENST00000374869.7:c.1227G>C | ENSP00000364003.3:p.Leu409= | |
| NM_152424.3:c.1227G>C | NP_689637.3:p.Leu409= | |
| XM_011530858.1:c.1227G>C | XP_011529160.1:p.Leu409= | |
| NM_152424.4:c.1227G>C MANE Select | NP_689637.3:p.Leu409= |