Linked Data
ClinVar Variation Id:
2319866
ClinVar RCV Id:
RCV002905927
dbSNP Id:
rs1169537877
gnomAD v2:
12-116434931-C-G
gnomAD v4:
12-115997126-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115997126C>G , CM000674.2:g.115997126C>G | GRCh38 |
| NC_000012.11:g.116434931C>G , CM000674.1:g.116434931C>G | GRCh37 |
| NC_000012.10:g.114919314C>G | NCBI36 |
| NG_023366.1:g.285061G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.2674G>C MANE Select | ENSP00000281928.3:p.Val892Leu | |
| ENST00000548743.2:c.2644G>C | ENSP00000448553.2:p.Val882Leu | |
| ENST00000549786.2:c.2102G>C | ||
| ENST00000647927.1:n.3047G>C | ||
| ENST00000648173.1:n.1469G>C | ||
| ENST00000648379.1:n.1042G>C | ||
| ENST00000648737.1:n.2438G>C | ||
| ENST00000648916.1:n.685G>C | ||
| ENST00000649607.1:c.858G>C | ||
| ENST00000650226.1:c.2674G>C | ENSP00000496981.1:p.Val892Leu | |
| ENST00000281928.7:c.2674G>C | ENSP00000281928.3:p.Val892Leu | |
| NM_015335.4:c.2674G>C | NP_056150.1:p.Val892Leu | |
| XM_011538080.1:c.2674G>C | XP_011536382.1:p.Val892Leu | |
| XM_011538081.1:c.2671G>C | XP_011536383.1:p.Val891Leu | |
| XM_011538082.1:c.2644G>C | XP_011536384.1:p.Val882Leu | |
| XM_011538080.2:c.2674G>C | XP_011536382.1:p.Val892Leu | |
| XM_011538081.2:c.2671G>C | XP_011536383.1:p.Val891Leu | |
| XM_011538082.2:c.2644G>C | XP_011536384.1:p.Val882Leu | |
| XM_017019090.1:c.2671G>C | XP_016874579.1:p.Val891Leu | |
| NM_015335.5:c.2674G>C MANE Select | NP_056150.1:p.Val892Leu |