Linked Data
ClinVar Variation Id:
88680
ClinVar RCV Id:
RCV000074363
dbSNP Id:
rs397518458
PubMed:
PMID:24055112
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.100162282T>G , CM000670.2:g.100162282T>G | GRCh38 |
| NC_000008.10:g.101174510T>G , CM000670.1:g.101174510T>G | GRCh37 |
| NC_000008.9:g.101243686T>G | NCBI36 |
| NG_033834.1:g.9248T>G | |
| NG_033834.2:g.9248T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388798.7:c.2T>G MANE Select | ENSP00000373450.3:p.Met1Arg | |
| ENST00000251809.4:c.2T>G | ENSP00000251809.3:p.Met1Arg | |
| ENST00000388798.6:c.2T>G | ENSP00000373450.2:p.Met1Arg | |
| ENST00000520508.5:c.2T>G | ENSP00000428070.1:p.Met1Arg | |
| ENST00000520643.5:c.2T>G | ENSP00000427716.1:p.Met1Arg | |
| NM_003114.4:c.2T>G | NP_003105.2:p.Met1Arg | |
| NM_172218.2:c.2T>G | NP_757367.1:p.Met1Arg | |
| XM_011517240.1:c.2T>G | XP_011515542.1:p.Met1Arg | |
| XM_011517241.1:c.2T>G | XP_011515543.1:p.Met1Arg | |
| XM_011517242.1:c.2T>G | XP_011515544.1:p.Met1Arg | |
| XM_011517243.1:c.2T>G | XP_011515545.1:p.Met1Arg | |
| XM_011517244.1:c.2T>G | XP_011515546.1:p.Met1Arg | |
| XM_011517245.1:c.2T>G | XP_011515547.1:p.Met1Arg | |
| XM_011517240.2:c.2T>G | XP_011515542.1:p.Met1Arg | |
| XM_011517241.2:c.2T>G | XP_011515543.1:p.Met1Arg | |
| XM_011517242.2:c.2T>G | XP_011515544.1:p.Met1Arg | |
| XM_011517243.2:c.2T>G | XP_011515545.1:p.Met1Arg | |
| XM_011517245.2:c.2T>G | XP_011515547.1:p.Met1Arg | |
| XM_017013754.1:c.246-3532T>G | XP_016869243.1:n.246-3532T>G | |
| XM_017013755.1:c.-196-3532T>G | XP_016869244.1:n.-196-3532T>G | |
| XR_001745580.1:n.88T>G | ||
| XR_001745581.1:n.88T>G | ||
| XR_001745582.1:n.88T>G | ||
| XR_001745583.1:n.88T>G | ||
| NM_001374321.1:c.2T>G | NP_001361250.1:p.Met1Arg | |
| NM_003114.5:c.2T>G MANE Select | NP_003105.2:p.Met1Arg | |
| NM_172218.3:c.2T>G | NP_757367.1:p.Met1Arg |