Linked Data
ClinVar Variation Id:
13836
ClinVar RCV Id:
RCV000014848
dbSNP Id:
rs121917708
PubMed:
PMID:17096318
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.120978500C>G , CM000664.2:g.120978500C>G | GRCh38 |
| NC_000002.11:g.121736076C>G , CM000664.1:g.121736076C>G | GRCh37 |
| NC_000002.10:g.121452546C>G | NCBI36 |
| NG_009030.1:g.186210C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361492.9:c.1384C>G MANE Select | ENSP00000354586.5:p.Arg462Gly | |
| ENST00000452319.6:c.1435C>G | ENSP00000390436.1:p.Arg479Gly | |
| ENST00000314490.15:c.448C>G | ENSP00000312694.12:p.Arg150Gly | |
| ENST00000341310.10:c.*483C>G | ENSP00000344473.6:n.*483C>G | |
| ENST00000361492.8:c.1435C>G | ENSP00000354586.4:p.Arg479Gly | |
| ENST00000435313.6:n.1409C>G | ||
| ENST00000437950.5:c.*534C>G | ENSP00000415773.1:n.*534C>G | |
| ENST00000438299.5:c.*534C>G | ENSP00000400593.1:n.*534C>G | |
| ENST00000445186.5:c.*534C>G | ENSP00000397488.1:n.*534C>G | |
| ENST00000452319.5:c.1435C>G | ENSP00000390436.1:p.Arg479Gly | |
| ENST00000452692.5:c.*483C>G | ENSP00000403715.1:n.*483C>G | |
| NM_005270.4:c.1435C>G | NP_005261.2:p.Arg479Gly | |
| XM_006712422.1:c.1384C>G | XP_006712485.1:p.Arg462Gly | |
| XM_011510969.1:c.1417C>G | XP_011509271.1:p.Arg473Gly | |
| XM_011510970.1:c.1294C>G | XP_011509272.1:p.Arg432Gly | |
| XM_011510971.1:c.1240C>G | XP_011509273.1:p.Arg414Gly | |
| XM_011510972.1:c.1240C>G | XP_011509274.1:p.Arg414Gly | |
| XM_011510973.1:c.1060C>G | XP_011509275.1:p.Arg354Gly | |
| XM_011510974.1:c.1009C>G | XP_011509276.1:p.Arg337Gly | |
| XM_006712422.3:c.1384C>G | XP_006712485.1:p.Arg462Gly | |
| XM_011510969.2:c.1687C>G | XP_011509271.2:p.Arg563Gly | |
| XM_011510970.2:c.1294C>G | XP_011509272.1:p.Arg432Gly | |
| XM_011510971.2:c.1240C>G | XP_011509273.1:p.Arg414Gly | |
| XM_011510972.2:c.1336C>G | XP_011509274.2:p.Arg446Gly | |
| XM_011510973.2:c.1060C>G | XP_011509275.1:p.Arg354Gly | |
| XM_011510974.2:c.1009C>G | XP_011509276.1:p.Arg337Gly | |
| XM_017003818.1:c.1636C>G | XP_016859307.1:p.Arg546Gly | |
| XM_024452794.1:c.1435C>G | XP_024308562.1:p.Arg479Gly | |
| XM_024452795.1:c.1435C>G | XP_024308563.1:p.Arg479Gly | |
| NM_001371271.1:c.1435C>G | NP_001358200.1:p.Arg479Gly | |
| NM_001374353.1:c.1384C>G MANE Select | NP_001361282.1:p.Arg462Gly | |
| NM_001374354.1:c.1009C>G | NP_001361283.1:p.Arg337Gly | |
| NM_005270.5:c.1435C>G | NP_005261.2:p.Arg479Gly |