Linked Data
dbSNP Id:
rs374246579
ExAC:
X:135741388 A / C
gnomAD v2:
X-135741388-A-C
gnomAD v4:
X-136659229-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659229A>C , CM000685.2:g.136659229A>C | GRCh38 |
| NC_000023.10:g.135741388A>C , CM000685.1:g.135741388A>C | GRCh37 |
| NC_000023.9:g.135569054A>C | NCBI36 |
| NG_007280.1:g.16053A>C , LRG_141:g.16053A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*218A>C | ENSP00000512122.1:n.*218A>C | |
| ENST00000695725.1:c.*155A>C | ENSP00000512123.1:n.*155A>C | |
| ENST00000695726.1:n.2568A>C | ||
| ENST00000695729.1:n.3403A>C | ||
| ENST00000370629.7:c.600A>C MANE Select | ENSP00000359663.2:p.Arg200Ser | |
| ENST00000370628.2:c.537A>C | ENSP00000359662.2:p.Arg179Ser | |
| ENST00000370629.6:c.600A>C | ENSP00000359663.2:p.Arg200Ser | |
| NM_000074.2:c.600A>C , LRG_141t1:c.600A>C | NP_000065.1:p.Arg200Ser | |
| NM_000074.3:c.600A>C MANE Select | NP_000065.1:p.Arg200Ser |