Linked Data
ClinVar Variation Id:
417727
ClinVar RCV Id:
RCV000477684
dbSNP Id:
rs1085307114
PubMed:
PMID:25878179
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11157255A>C , CM000663.2:g.11157255A>C | GRCh38 |
| NC_000001.10:g.11217312A>C , CM000663.1:g.11217312A>C | GRCh37 |
| NC_000001.9:g.11139899A>C | NCBI36 |
| NG_033239.1:g.110297T>G , LRG_734:g.110297T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703118.1:c.4366T>G | ENSP00000515181.1:p.Trp1456Gly | |
| ENST00000703131.1:n.286T>G | ||
| ENST00000703140.1:c.4153T>G | ENSP00000515197.1:p.Trp1385Gly | |
| ENST00000703141.1:c.4366T>G | ENSP00000515198.1:p.Trp1456Gly | |
| ENST00000703142.1:c.*1196T>G | ENSP00000515199.1:n.*1196T>G | |
| ENST00000361445.9:c.4366T>G MANE Select | ENSP00000354558.4:p.Trp1456Gly | |
| ENST00000361445.8:c.4366T>G | ENSP00000354558.4:p.Trp1456Gly | |
| NM_004958.3:c.4366T>G , LRG_734t1:c.4366T>G | NP_004949.1:p.Trp1456Gly | |
| XM_005263438.1:c.4366T>G | XP_005263495.1:p.Trp1456Gly | |
| XM_011541166.1:c.4366T>G | XP_011539468.1:p.Trp1456Gly | |
| XR_244786.1:n.4487T>G | ||
| XM_005263438.2:c.4366T>G | XP_005263495.1:p.Trp1456Gly | |
| XM_011541166.2:c.4366T>G | XP_011539468.1:p.Trp1456Gly | |
| XM_017000900.1:c.3685T>G | XP_016856389.1:p.Trp1229Gly | |
| XM_017000901.1:c.3118T>G | XP_016856390.1:p.Trp1040Gly | |
| XM_024446187.1:c.4366T>G | XP_024301955.1:p.Trp1456Gly | |
| XR_001737087.1:n.4487T>G | ||
| NM_004958.4:c.4366T>G MANE Select | NP_004949.1:p.Trp1456Gly | |
| NM_001386500.1:c.4366T>G | NP_001373429.1:p.Trp1456Gly | |
| NM_001386501.1:c.3118T>G | NP_001373430.1:p.Trp1040Gly |