Linked Data
dbSNP Id:
rs370235898
ExAC:
X:48542298 A / C
gnomAD v2:
X-48542298-A-C
gnomAD v3:
X-48683909-A-C
gnomAD v4:
X-48683909-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48683909A>C , CM000685.2:g.48683909A>C | GRCh38 |
| NC_000023.10:g.48542298A>C , CM000685.1:g.48542298A>C | GRCh37 |
| NC_000023.9:g.48427242A>C | NCBI36 |
| NG_007877.1:g.5113A>C , LRG_125:g.5113A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000483750.6:n.89A>C | ||
| ENST00000698625.1:c.56A>C | ENSP00000513844.1:p.Gln19Pro | |
| ENST00000698626.1:c.56A>C | ENSP00000513845.1:p.Gln19Pro | |
| ENST00000698635.1:c.56A>C | ENSP00000513850.1:p.Gln19Pro | |
| ENST00000376701.5:c.56A>C MANE Select | ENSP00000365891.4:p.Gln19Pro | |
| ENST00000376701.4:c.56A>C | ENSP00000365891.4:p.Gln19Pro | |
| ENST00000450772.5:c.56A>C | ENSP00000410537.1:p.Gln19Pro | |
| ENST00000465982.5:n.91A>C | ||
| ENST00000483750.5:n.82A>C | ||
| NM_000377.2:c.56A>C , LRG_125t1:c.56A>C | NP_000368.1:p.Gln19Pro | |
| XM_011543977.1:c.56A>C | XP_011542279.1:p.Gln19Pro | |
| XM_011543977.2:c.56A>C | XP_011542279.1:p.Gln19Pro | |
| XM_017029786.1:c.56A>C | XP_016885275.1:p.Gln19Pro | |
| NM_000377.3:c.56A>C MANE Select | NP_000368.1:p.Gln19Pro |