Linked Data
ClinVar Variation Id:
162197
ClinVar RCV Id:
RCV000149577
dbSNP Id:
rs724159959
PubMed:
PMID:25439726
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68929240T>G , CM000673.2:g.68929240T>G | GRCh38 |
| NC_000011.9:g.68696708T>G , CM000673.1:g.68696708T>G | GRCh37 |
| NC_000011.8:g.68453284T>G | NCBI36 |
| NG_007976.1:g.30390T>G , LRG_250:g.30390T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1118T>G MANE Select | ENSP00000255078.4:p.Val373Gly | |
| ENST00000674698.1:n.58T>G | ||
| ENST00000674745.1:c.283T>G | ENSP00000502738.1:n.283T>G | |
| ENST00000674775.1:n.318T>G | ||
| ENST00000674955.1:c.1118T>G | ENSP00000502463.1:p.Val373Gly | |
| ENST00000675118.1:c.606T>G | ||
| ENST00000675305.1:c.438T>G | ENSP00000502365.1:n.438T>G | |
| ENST00000675310.1:n.58T>G | ||
| ENST00000675493.1:n.279T>G | ||
| ENST00000675615.1:c.1118T>G | ENSP00000502413.1:p.Val373Gly | |
| ENST00000675648.1:n.493T>G | ||
| ENST00000675684.1:c.245T>G | ENSP00000502192.1:p.Val82Gly | |
| ENST00000675755.1:n.58T>G | ||
| ENST00000676083.1:n.58T>G | ||
| ENST00000676173.1:n.1162T>G | ||
| ENST00000676228.1:c.*441T>G | ENSP00000502375.1:n.*441T>G | |
| ENST00000676240.1:n.58T>G | ||
| ENST00000676400.1:n.58T>G | ||
| ENST00000255078.7:c.1118T>G | ENSP00000255078.3:p.Val373Gly | |
| ENST00000568742.1:n.228T>G | ||
| NM_002180.2:c.1118T>G , LRG_250t1:c.1118T>G | NP_002171.2:p.Val373Gly | |
| XM_005273974.2:c.107T>G | XP_005274031.1:p.Val36Gly | |
| XM_005273976.1:c.1118T>G | XP_005274033.1:p.Val373Gly | |
| XR_247198.1:n.1220T>G | ||
| XR_949903.1:n.1220T>G | ||
| XM_005273976.2:c.1118T>G | XP_005274033.1:p.Val373Gly | |
| XM_017017669.2:c.107T>G | XP_016873158.1:p.Val36Gly | |
| XM_017017670.2:c.107T>G | XP_016873159.1:p.Val36Gly | |
| XM_017017671.2:c.1118T>G | XP_016873160.1:p.Val373Gly | |
| XR_949903.3:n.1216T>G | ||
| NM_002180.3:c.1118T>G MANE Select | NP_002171.2:p.Val373Gly |