Linked Data
ClinVar Variation Id:
97340
ClinVar RCV Id:
RCV000083588
dbSNP Id:
rs66724222
PubMed:
PMID:11793468
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38408988G>T , CM000685.2:g.38408988G>T | GRCh38 |
| NC_000023.10:g.38268241G>T , CM000685.1:g.38268241G>T | GRCh37 |
| NC_000023.9:g.38153185G>T | NCBI36 |
| NG_008471.1:g.61506G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000039007.5:c.830G>T MANE Select | ENSP00000039007.4:p.Arg277Leu | |
| ENST00000643344.1:c.*580G>T | ENSP00000496606.1:n.*580G>T | |
| ENST00000039007.4:c.830G>T | ENSP00000039007.4:p.Arg277Leu | |
| ENST00000465127.1:c.172-257133G>T | ENSP00000417050.1:n.172-257133G>T | |
| NM_000531.5:c.830G>T | NP_000522.3:p.Arg277Leu | |
| XM_017029556.1:c.830G>T | XP_016885045.1:p.Arg277Leu | |
| NM_000531.6:c.830G>T MANE Select | NP_000522.3:p.Arg277Leu |