Linked Data
dbSNP Id:
rs782488331
ExAC:
X:48546456 G / C
gnomAD v2:
X-48546456-G-C
gnomAD v4:
X-48688067-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48688067G>C , CM000685.2:g.48688067G>C | GRCh38 |
| NC_000023.10:g.48546456G>C , CM000685.1:g.48546456G>C | GRCh37 |
| NC_000023.9:g.48431400G>C | NCBI36 |
| NG_007877.1:g.9271G>C , LRG_125:g.9271G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000483750.6:n.781G>C | ||
| ENST00000490627.2:n.185G>C | ||
| ENST00000698625.1:c.748G>C | ENSP00000513844.1:p.Val250Leu | |
| ENST00000698626.1:c.748G>C | ENSP00000513845.1:p.Val250Leu | |
| ENST00000698635.1:c.748G>C | ENSP00000513850.1:p.Val250Leu | |
| ENST00000376701.5:c.748G>C MANE Select | ENSP00000365891.4:p.Val250Leu | |
| ENST00000376701.4:c.748G>C | ENSP00000365891.4:p.Val250Leu | |
| ENST00000465982.5:n.648G>C | ||
| ENST00000483750.5:n.774G>C | ||
| ENST00000490627.1:n.168G>C | ||
| NM_000377.2:c.748G>C , LRG_125t1:c.748G>C | NP_000368.1:p.Val250Leu | |
| XM_011543977.1:c.748G>C | XP_011542279.1:p.Val250Leu | |
| XM_011543977.2:c.748G>C | XP_011542279.1:p.Val250Leu | |
| XM_017029786.1:c.748G>C | XP_016885275.1:p.Val250Leu | |
| NM_000377.3:c.748G>C MANE Select | NP_000368.1:p.Val250Leu |