Linked Data
ClinVar Variation Id:
2787305
ClinVar RCV Id:
RCV003621867
dbSNP Id:
rs1445758273
gnomAD v2:
X-135741304-T-C
gnomAD v4:
X-136659145-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659145T>C , CM000685.2:g.136659145T>C | GRCh38 |
| NC_000023.10:g.135741304T>C , CM000685.1:g.135741304T>C | GRCh37 |
| NC_000023.9:g.135568970T>C | NCBI36 |
| NG_007280.1:g.15969T>C , LRG_141:g.15969T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*134T>C | ENSP00000512122.1:n.*134T>C | |
| ENST00000695725.1:c.*71T>C | ENSP00000512123.1:n.*71T>C | |
| ENST00000695726.1:n.2484T>C | ||
| ENST00000695729.1:n.3319T>C | ||
| ENST00000370629.7:c.516T>C MANE Select | ENSP00000359663.2:p.Tyr172= | |
| ENST00000370628.2:c.453T>C | ENSP00000359662.2:p.Tyr151= | |
| ENST00000370629.6:c.516T>C | ENSP00000359663.2:p.Tyr172= | |
| NM_000074.2:c.516T>C , LRG_141t1:c.516T>C | NP_000065.1:p.Tyr172= | |
| NM_000074.3:c.516T>C MANE Select | NP_000065.1:p.Tyr172= |