Linked Data
ClinVar Variation Id:
376728
ClinVar RCV Id:
RCV000437499
dbSNP Id:
rs121913671
COSMIC:
COSM689
PubMed:
PMID:9826708
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.116783353G>C , CM000669.2:g.116783353G>C | GRCh38 |
| NC_000007.13:g.116423407G>C , CM000669.1:g.116423407G>C | GRCh37 |
| NC_000007.12:g.116210643G>C | NCBI36 |
| NG_008996.1:g.115949G>C , LRG_662:g.115949G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000436117.3:c.*1287G>C | ENSP00000410980.2:n.*1287G>C | |
| ENST00000318493.11:c.3736G>C | ENSP00000317272.6:p.Asp1246His | |
| ENST00000397752.8:c.3682G>C MANE Select | ENSP00000380860.3:p.Asp1228His | |
| ENST00000318493.10:c.3736G>C | ENSP00000317272.6:p.Asp1246His | |
| ENST00000397752.7:c.3682G>C | ENSP00000380860.3:p.Asp1228His | |
| NM_000245.2:c.3682G>C | NP_000236.2:p.Asp1228His | |
| NM_001127500.1:c.3736G>C , LRG_662t1:c.3736G>C | NP_001120972.1:p.Asp1246His | |
| XM_006715990.2:c.2392G>C | XP_006716053.1:p.Asp798His | |
| XM_006715991.2:c.2392G>C | XP_006716054.1:p.Asp798His | |
| XM_011516223.1:c.3739G>C | XP_011514525.1:p.Asp1247His | |
| NM_000245.3:c.3682G>C | NP_000236.2:p.Asp1228His | |
| NM_001127500.2:c.3736G>C | NP_001120972.1:p.Asp1246His | |
| NM_001324402.1:c.2392G>C | NP_001311331.1:p.Asp798His | |
| XR_001744772.1:n.3813G>C | ||
| NM_001127500.3:c.3736G>C | NP_001120972.1:p.Asp1246His | |
| NM_000245.4:c.3682G>C MANE Select | NP_000236.2:p.Asp1228His | |
| NM_001324402.2:c.2392G>C | NP_001311331.1:p.Asp798His |