Linked Data
ClinVar Variation Id:
2630936
ClinVar RCV Id:
RCV003404310
dbSNP Id:
rs1557287605
gnomAD v2:
X-154250794-A-G
gnomAD v4:
X-155022519-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.155022519A>G , CM000685.2:g.155022519A>G | GRCh38 |
| NC_000023.10:g.154250794A>G , CM000685.1:g.154250794A>G | GRCh37 |
| NC_000023.9:g.153903988A>G | NCBI36 |
| NG_011403.1:g.5205T>C | |
| NG_011403.2:g.5205T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.34T>C MANE Select | ENSP00000353393.4:p.Cys12Arg | |
| ENST00000647125.1:c.34T>C | ENSP00000496062.1:p.Cys12Arg | |
| ENST00000360256.8:c.34T>C | ENSP00000353393.4:p.Cys12Arg | |
| ENST00000423959.5:c.38+4261T>C | ENSP00000409446.1:n.38+4261T>C | |
| ENST00000453950.1:c.39-23T>C | ENSP00000389153.1:n.39-23T>C | |
| NM_000132.3:c.34T>C | NP_000123.1:p.Cys12Arg | |
| XM_011531126.1:c.38+4261T>C | XP_011529428.1:n.38+4261T>C | |
| NM_000132.4:c.34T>C MANE Select | NP_000123.1:p.Cys12Arg |