Linked Data
dbSNP Id:
rs137852552
ExAC:
X:601772 C / T
gnomAD v2:
X-601772-C-T
gnomAD v3:
X-641037-C-T
gnomAD v4:
X-641037-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.641037C>T , CM000685.2:g.641037C>T | GRCh38 |
| NC_000023.10:g.601772C>T , CM000685.1:g.601772C>T | GRCh37 |
| NC_000023.9:g.521772C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000686671.1:c.583C>T MANE Select | ENSP00000508521.1:p.Arg195Ter | |
| ENST00000334060.8:c.583C>T | ENSP00000335505.3:p.Arg195Ter | |
| ENST00000381575.6:c.583C>T | ENSP00000370987.1:p.Arg195Ter | |
| ENST00000381578.6:c.583C>T | ENSP00000370990.1:p.Arg195Ter | |
| ENST00000554971.6:c.583C>T | ENSP00000452016.1:p.Arg195Ter |