Linked Data
ClinVar Variation Id:
2846509
ClinVar RCV Id:
RCV003623157
dbSNP Id:
rs758401320
ExAC:
X:135741486 C / T
gnomAD v2:
X-135741486-C-T
gnomAD v4:
X-136659327-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659327C>T , CM000685.2:g.136659327C>T | GRCh38 |
| NC_000023.10:g.135741486C>T , CM000685.1:g.135741486C>T | GRCh37 |
| NC_000023.9:g.135569152C>T | NCBI36 |
| NG_007280.1:g.16151C>T , LRG_141:g.16151C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*316C>T | ENSP00000512122.1:n.*316C>T | |
| ENST00000695725.1:c.*253C>T | ENSP00000512123.1:n.*253C>T | |
| ENST00000695726.1:n.2666C>T | ||
| ENST00000695729.1:n.3501C>T | ||
| ENST00000370629.7:c.698C>T MANE Select | ENSP00000359663.2:p.Pro233Leu | |
| ENST00000370628.2:c.635C>T | ENSP00000359662.2:p.Pro212Leu | |
| ENST00000370629.6:c.698C>T | ENSP00000359663.2:p.Pro233Leu | |
| NM_000074.2:c.698C>T , LRG_141t1:c.698C>T | NP_000065.1:p.Pro233Leu | |
| NM_000074.3:c.698C>T MANE Select | NP_000065.1:p.Pro233Leu |