Linked Data
ClinVar Variation Id:
40002
ClinVar RCV Id:
RCV000033129
dbSNP Id:
rs397515430
ExAC:
19:41114221 C / T
gnomAD v2:
19-41114221-C-T
gnomAD v3:
19-40608315-C-T
gnomAD v4:
19-40608315-C-T
PubMed:
PMID:22829427
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40608315C>T , CM000681.2:g.40608315C>T | GRCh38 |
| NC_000019.9:g.41114221C>T , CM000681.1:g.41114221C>T | GRCh37 |
| NC_000019.8:g.45806061C>T | NCBI36 |
| NG_021201.1:g.20150C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396819.8:c.1252C>T MANE Select | ENSP00000380031.5:p.Arg418Ter | |
| ENST00000204005.13:c.1342C>T | ENSP00000204005.10:p.Arg448Ter | |
| ENST00000308370.11:c.1453C>T | ENSP00000311905.8:p.Arg485Ter | |
| ENST00000396819.7:c.1252C>T | ENSP00000380031.4:p.Arg418Ter | |
| ENST00000595529.1:n.322C>T | ||
| ENST00000598717.5:n.429-3059C>T | ||
| NM_001042544.1:c.1453C>T | NP_001036009.1:p.Arg485Ter | |
| NM_001042545.1:c.1252C>T | NP_001036010.1:p.Arg418Ter | |
| NM_003573.2:c.1342C>T | NP_003564.2:p.Arg448Ter | |
| XM_011527376.1:c.1453C>T | XP_011525678.1:p.Arg485Ter | |
| XM_011527377.1:c.1486C>T | XP_011525679.1:p.Arg496Ter | |
| XM_011527378.1:c.1486C>T | XP_011525680.1:p.Arg496Ter | |
| XM_011527379.1:c.1252C>T | XP_011525681.1:p.Arg418Ter | |
| XM_011527380.1:c.1486C>T | XP_011525682.1:p.Arg496Ter | |
| XM_011527381.1:c.1486C>T | XP_011525683.1:p.Arg496Ter | |
| XM_011527382.1:c.1486C>T | XP_011525684.1:p.Arg496Ter | |
| XM_011527383.1:c.1486C>T | XP_011525685.1:p.Arg496Ter | |
| XM_011527384.1:c.1486C>T | XP_011525686.1:p.Arg496Ter | |
| XM_011527385.1:c.1486C>T | XP_011525687.1:p.Arg496Ter | |
| XM_011527386.1:c.1486C>T | XP_011525688.1:p.Arg496Ter | |
| XM_011527387.1:c.844C>T | XP_011525689.1:p.Arg282Ter | |
| XM_011527376.2:c.1453C>T | XP_011525678.1:p.Arg485Ter | |
| XM_011527377.2:c.1486C>T | XP_011525679.1:p.Arg496Ter | |
| XM_011527378.2:c.1486C>T | XP_011525680.1:p.Arg496Ter | |
| XM_011527380.2:c.1486C>T | XP_011525682.1:p.Arg496Ter | |
| XM_011527381.2:c.1486C>T | XP_011525683.1:p.Arg496Ter | |
| XM_011527382.2:c.1486C>T | XP_011525684.1:p.Arg496Ter | |
| XM_011527383.2:c.1486C>T | XP_011525685.1:p.Arg496Ter | |
| XM_011527384.2:c.1486C>T | XP_011525686.1:p.Arg496Ter | |
| XM_011527385.2:c.1486C>T | XP_011525687.1:p.Arg496Ter | |
| XM_011527386.2:c.1486C>T | XP_011525688.1:p.Arg496Ter | |
| XM_017027352.1:c.1486C>T | XP_016882841.1:p.Arg496Ter | |
| XM_017027353.1:c.1486C>T | XP_016882842.1:p.Arg496Ter | |
| XM_017027354.1:c.1486C>T | XP_016882843.1:p.Arg496Ter | |
| NM_001042545.2:c.1252C>T MANE Select | NP_001036010.1:p.Arg418Ter |