Linked Data
ClinVar Variation Id:
2883350
ClinVar RCV Id:
RCV003623698
dbSNP Id:
rs752876443
ExAC:
X:135741479 T / C
gnomAD v2:
X-135741479-T-C
gnomAD v3:
X-136659320-T-C
gnomAD v4:
X-136659320-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659320T>C , CM000685.2:g.136659320T>C | GRCh38 |
| NC_000023.10:g.135741479T>C , CM000685.1:g.135741479T>C | GRCh37 |
| NC_000023.9:g.135569145T>C | NCBI36 |
| NG_007280.1:g.16144T>C , LRG_141:g.16144T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*309T>C | ENSP00000512122.1:n.*309T>C | |
| ENST00000695725.1:c.*246T>C | ENSP00000512123.1:n.*246T>C | |
| ENST00000695726.1:n.2659T>C | ||
| ENST00000695729.1:n.3494T>C | ||
| ENST00000370629.7:c.691T>C MANE Select | ENSP00000359663.2:p.Leu231= | |
| ENST00000370628.2:c.628T>C | ENSP00000359662.2:p.Leu210= | |
| ENST00000370629.6:c.691T>C | ENSP00000359663.2:p.Leu231= | |
| NM_000074.2:c.691T>C , LRG_141t1:c.691T>C | NP_000065.1:p.Leu231= | |
| NM_000074.3:c.691T>C MANE Select | NP_000065.1:p.Leu231= |