Linked Data
dbSNP Id:
rs1456141956
gnomAD v2:
X-135741576-C-T
gnomAD v3:
X-136659417-C-T
gnomAD v4:
X-136659417-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659417C>T , CM000685.2:g.136659417C>T | GRCh38 |
| NC_000023.10:g.135741576C>T , CM000685.1:g.135741576C>T | GRCh37 |
| NC_000023.9:g.135569242C>T | NCBI36 |
| NG_007280.1:g.16241C>T , LRG_141:g.16241C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*406C>T | ENSP00000512122.1:n.*406C>T | |
| ENST00000695725.1:c.*343C>T | ENSP00000512123.1:n.*343C>T | |
| ENST00000695726.1:n.2756C>T | ||
| ENST00000695729.1:n.3591C>T | ||
| ENST00000370629.7:c.*2C>T MANE Select | ENSP00000359663.2:n.*2C>T | |
| ENST00000370628.2:c.*2C>T | ENSP00000359662.2:n.*2C>T | |
| ENST00000370629.6:c.*2C>T | ENSP00000359663.2:n.*2C>T | |
| NM_000074.2:c.*2C>T , LRG_141t1:c.*2C>T | NP_000065.1:n.*2C>T | |
| NM_000074.3:c.*2C>T MANE Select | NP_000065.1:n.*2C>T |