Linked Data
ClinVar Variation Id:
161526
ClinVar RCV Id:
RCV000149061
dbSNP Id:
rs193920933
gnomAD v4:
3-197996244-G-T
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.197996244G>T , CM000665.2:g.197996244G>T | GRCh38 |
| NC_000003.11:g.197723115G>T , CM000665.1:g.197723115G>T | GRCh37 |
| NC_000003.10:g.199207512G>T | NCBI36 |
| NG_047207.1:g.41045G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420910.7:c.1093G>T MANE Select | ENSP00000410926.3:p.Gly365Cys | |
| ENST00000330198.8:c.1117G>T | ENSP00000328829.4:p.Gly373Cys | |
| ENST00000332636.5:c.961G>T | ENSP00000328611.5:p.Gly321Cys | |
| ENST00000420910.6:c.1117G>T | ENSP00000410926.2:p.Gly373Cys | |
| ENST00000451139.6:n.1608G>T | ||
| ENST00000472063.5:n.428G>T | ||
| ENST00000473676.5:n.575G>T | ||
| ENST00000476356.5:n.319G>T | ||
| ENST00000480813.1:n.133G>T | ||
| ENST00000482695.5:c.961G>T | ENSP00000418324.1:p.Gly321Cys | |
| NM_001136049.2:c.1117G>T | NP_001129521.2:p.Gly373Cys | |
| NM_033029.3:c.1117G>T | NP_149018.2:p.Gly373Cys | |
| NR_026786.1:n.1018G>T | ||
| NR_026787.1:n.1018G>T | ||
| XM_011513270.1:c.1102G>T | XP_011511572.1:p.Gly368Cys | |
| XM_011513271.1:c.1117G>T | XP_011511573.1:p.Gly373Cys | |
| XM_011513272.1:c.1117G>T | XP_011511574.1:p.Gly373Cys | |
| NR_026786.2:n.1001G>T | ||
| NR_026787.2:n.1001G>T | ||
| NM_001136049.3:c.1093G>T MANE Select | NP_001129521.3:p.Gly365Cys | |
| NM_033029.4:c.1093G>T | NP_149018.3:p.Gly365Cys |