Linked Data
dbSNP Id:
rs755229833
ExAC:
X:135741470 G / T
gnomAD v2:
X-135741470-G-T
gnomAD v4:
X-136659311-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659311G>T , CM000685.2:g.136659311G>T | GRCh38 |
| NC_000023.10:g.135741470G>T , CM000685.1:g.135741470G>T | GRCh37 |
| NC_000023.9:g.135569136G>T | NCBI36 |
| NG_007280.1:g.16135G>T , LRG_141:g.16135G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*300G>T | ENSP00000512122.1:n.*300G>T | |
| ENST00000695725.1:c.*237G>T | ENSP00000512123.1:n.*237G>T | |
| ENST00000695726.1:n.2650G>T | ||
| ENST00000695729.1:n.3485G>T | ||
| ENST00000370629.7:c.682G>T MANE Select | ENSP00000359663.2:p.Val228Leu | |
| ENST00000370628.2:c.619G>T | ENSP00000359662.2:p.Val207Leu | |
| ENST00000370629.6:c.682G>T | ENSP00000359663.2:p.Val228Leu | |
| NM_000074.2:c.682G>T , LRG_141t1:c.682G>T | NP_000065.1:p.Val228Leu | |
| NM_000074.3:c.682G>T MANE Select | NP_000065.1:p.Val228Leu |