Linked Data
dbSNP Id:
rs773594916
ExAC:
X:135741438 C / T
gnomAD v2:
X-135741438-C-T
gnomAD v4:
X-136659279-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659279C>T , CM000685.2:g.136659279C>T | GRCh38 |
| NC_000023.10:g.135741438C>T , CM000685.1:g.135741438C>T | GRCh37 |
| NC_000023.9:g.135569104C>T | NCBI36 |
| NG_007280.1:g.16103C>T , LRG_141:g.16103C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*268C>T | ENSP00000512122.1:n.*268C>T | |
| ENST00000695725.1:c.*205C>T | ENSP00000512123.1:n.*205C>T | |
| ENST00000695726.1:n.2618C>T | ||
| ENST00000695729.1:n.3453C>T | ||
| ENST00000370629.7:c.650C>T MANE Select | ENSP00000359663.2:p.Pro217Leu | |
| ENST00000370628.2:c.587C>T | ENSP00000359662.2:p.Pro196Leu | |
| ENST00000370629.6:c.650C>T | ENSP00000359663.2:p.Pro217Leu | |
| NM_000074.2:c.650C>T , LRG_141t1:c.650C>T | NP_000065.1:p.Pro217Leu | |
| NM_000074.3:c.650C>T MANE Select | NP_000065.1:p.Pro217Leu |