Linked Data
ClinVar Variation Id:
187
ClinVar RCV Id:
RCV000000210
dbSNP Id:
rs267606774
PubMed:
PMID:17383919
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.104424247C>A , CM000670.2:g.104424247C>A | GRCh38 |
| NC_000008.10:g.105436475C>A , CM000670.1:g.105436475C>A | GRCh37 |
| NC_000008.9:g.105505651C>A | NCBI36 |
| NG_008840.1:g.47803G>T | |
| NG_008840.2:g.47803G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351513.7:c.1235G>T MANE Select | ENSP00000276651.2:p.Arg412Met | |
| ENST00000351513.6:c.1235G>T | ENSP00000276651.2:p.Arg412Met | |
| NM_001385.2:c.1235G>T | NP_001376.1:p.Arg412Met | |
| XM_005250818.2:c.1235G>T | XP_005250875.1:p.Arg412Ile | |
| XM_006716518.2:c.1076G>T | XP_006716581.1:p.Arg359Ile | |
| XM_011516903.1:c.1235G>T | XP_011515205.1:p.Arg412Ile | |
| XM_011516904.1:c.1235G>T | XP_011515206.1:p.Ser412Ile | |
| XM_005250818.3:c.1235G>T | XP_005250875.1:p.Arg412Ile | |
| XM_006716518.3:c.1076G>T | XP_006716581.1:p.Arg359Ile | |
| XM_011516903.3:c.1235G>T | XP_011515205.1:p.Arg412Ile | |
| XM_017013167.2:c.1235G>T | XP_016868656.1:p.Arg412Ile | |
| XM_024447087.1:c.1235G>T | XP_024302855.1:p.Arg412Ile | |
| XR_001745489.1:n.1389G>T | ||
| XR_001745490.2:n.1389G>T | ||
| NM_001385.3:c.1235G>T MANE Select | NP_001376.1:p.Arg412Met |