Linked Data
ClinVar Variation Id:
1982375
ClinVar RCV Id:
RCV002785458
dbSNP Id:
rs917505559
gnomAD v4:
X-136659302-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659302T>C , CM000685.2:g.136659302T>C | GRCh38 |
| NC_000023.10:g.135741461T>C , CM000685.1:g.135741461T>C | GRCh37 |
| NC_000023.9:g.135569127T>C | NCBI36 |
| NG_007280.1:g.16126T>C , LRG_141:g.16126T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*291T>C | ENSP00000512122.1:n.*291T>C | |
| ENST00000695725.1:c.*228T>C | ENSP00000512123.1:n.*228T>C | |
| ENST00000695726.1:n.2641T>C | ||
| ENST00000695729.1:n.3476T>C | ||
| ENST00000370629.7:c.673T>C MANE Select | ENSP00000359663.2:p.Leu225= | |
| ENST00000370628.2:c.610T>C | ENSP00000359662.2:p.Leu204= | |
| ENST00000370629.6:c.673T>C | ENSP00000359663.2:p.Leu225= | |
| NM_000074.2:c.673T>C , LRG_141t1:c.673T>C | NP_000065.1:p.Leu225= | |
| NM_000074.3:c.673T>C MANE Select | NP_000065.1:p.Leu225= |