Linked Data
ClinVar Variation Id:
115
ClinVar RCV Id:
RCV000000135
dbSNP Id:
rs267607172
PubMed:
PMID:20190753
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77454101A>C , CM000676.2:g.77454101A>C | GRCh38 |
| NC_000014.8:g.77920444A>C , CM000676.1:g.77920444A>C | GRCh37 |
| NC_000014.7:g.76990197A>C | NCBI36 |
| NG_023421.1:g.8540T>G | |
| NG_023421.2:g.8540T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000557658.6:c.2T>G MANE Select | ENSP00000452191.1:p.Met1Arg | |
| ENST00000327028.8:c.2T>G | ENSP00000313098.5:p.Met1Arg | |
| ENST00000343765.6:c.2T>G | ENSP00000339122.2:p.Met1Arg | |
| ENST00000448935.6:c.2T>G | ENSP00000404815.2:p.Met1Arg | |
| ENST00000553888.5:c.2T>G | ENSP00000452181.1:p.Met1Arg | |
| ENST00000556412.4:c.80T>G | ENSP00000451857.1:p.Met27Arg | |
| ENST00000557466.1:c.2T>G | ENSP00000452176.1:p.Met1Arg | |
| ENST00000557658.5:c.2T>G | ENSP00000452191.1:p.Met1Arg | |
| NM_001193314.1:c.2T>G | NP_001180243.1:p.Met1Arg | |
| NM_001193315.1:c.2T>G | NP_001180244.1:p.Met1Arg | |
| NM_001193316.1:c.2T>G | NP_001180245.1:p.Met1Arg | |
| NM_001193317.1:c.2T>G | NP_001180246.1:p.Met1Arg | |
| NM_022067.3:c.2T>G | NP_071350.2:p.Met1Arg | |
| XM_011537066.1:c.2T>G | XP_011535368.1:p.Met1Arg | |
| XM_011537066.2:c.2T>G | XP_011535368.1:p.Met1Arg | |
| XM_017021580.2:c.2T>G | XP_016877069.1:p.Met1Arg | |
| XM_017021581.2:c.2T>G | XP_016877070.1:p.Met1Arg | |
| XM_024449688.1:c.2T>G | XP_024305456.1:p.Met1Arg | |
| XR_001750501.2:n.124T>G | ||
| NM_001193314.2:c.2T>G | NP_001180243.1:p.Met1Arg | |
| NM_001193316.2:c.2T>G | NP_001180245.1:p.Met1Arg | |
| NM_001193317.2:c.2T>G | NP_001180246.1:p.Met1Arg | |
| NM_022067.4:c.2T>G | NP_071350.2:p.Met1Arg | |
| NM_001193315.2:c.2T>G MANE Select | NP_001180244.1:p.Met1Arg | |
| NM_001400324.1:c.2T>G | NP_001387253.1:p.Met1Arg | |
| NM_001400325.1:c.2T>G | NP_001387254.1:p.Met1Arg | |
| NM_001400326.1:c.2T>G | NP_001387255.1:p.Met1Arg | |
| NM_001400327.1:c.2T>G | NP_001387256.1:p.Met1Arg | |
| NM_001400330.1:c.2T>G | NP_001387259.1:p.Met1Arg | |
| NM_001400331.1:c.2T>G | NP_001387260.1:p.Met1Arg | |
| NM_001400332.1:c.2T>G | NP_001387261.1:p.Met1Arg | |
| NM_001400333.1:c.2T>G | NP_001387262.1:p.Met1Arg | |
| NM_001400334.1:c.2T>G | NP_001387263.1:p.Met1Arg | |
| NM_001400335.1:c.2T>G | NP_001387264.1:p.Met1Arg | |
| NM_001400336.1:c.2T>G | NP_001387265.1:p.Met1Arg | |
| NM_001400337.1:c.2T>G | NP_001387266.1:p.Met1Arg | |
| NM_001400338.1:c.2T>G | NP_001387267.1:p.Met1Arg | |
| NM_001400339.1:c.2T>G | NP_001387268.1:p.Met1Arg | |
| NR_174476.1:n.109T>G |