Linked Data
ClinVar Variation Id:
3933
dbSNP Id:
rs121907977
ExAC:
15:72641504 A / C
gnomAD v2:
15-72641504-A-C
gnomAD v3:
15-72349163-A-C
gnomAD v4:
15-72349163-A-C
PubMed:
PMID:8490625
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72349163A>C , CM000677.2:g.72349163A>C | GRCh38 |
| NC_000015.9:g.72641504A>C , CM000677.1:g.72641504A>C | GRCh37 |
| NC_000015.8:g.70428558A>C | NCBI36 |
| NG_009017.1:g.32017T>G | |
| NG_009017.2:g.32017T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000563908.2:n.3248T>G | ||
| ENST00000567027.6:c.902T>G | ENSP00000457521.2:p.Met301Arg | |
| ENST00000682061.1:c.*564T>G | ENSP00000508316.1:n.*564T>G | |
| ENST00000682177.1:c.945T>G | ENSP00000507409.1:n.945T>G | |
| ENST00000682461.1:c.1008T>G | ENSP00000507308.1:n.1008T>G | |
| ENST00000682653.1:n.933T>G | ||
| ENST00000682657.1:c.*312T>G | ENSP00000507753.1:n.*312T>G | |
| ENST00000682721.1:c.*705T>G | ENSP00000507535.1:n.*705T>G | |
| ENST00000682843.1:c.*800T>G | ENSP00000508173.1:n.*800T>G | |
| ENST00000683003.1:c.*312T>G | ENSP00000507576.1:n.*312T>G | |
| ENST00000683133.1:c.1086T>G | ENSP00000508108.1:n.1086T>G | |
| ENST00000683228.1:n.933T>G | ||
| ENST00000683243.1:c.*312T>G | ENSP00000507042.1:n.*312T>G | |
| ENST00000683463.1:c.902T>G | ENSP00000507986.1:p.Met301Arg | |
| ENST00000683548.1:n.933T>G | ||
| ENST00000683579.1:c.*800T>G | ENSP00000506867.1:n.*800T>G | |
| ENST00000683587.1:n.933T>G | ||
| ENST00000683681.1:c.902T>G | ENSP00000508110.1:p.Met301Arg | |
| ENST00000683735.1:c.*800T>G | ENSP00000508336.1:n.*800T>G | |
| ENST00000683742.1:n.733T>G | ||
| ENST00000683853.1:c.902T>G | ENSP00000506834.1:p.Met301Arg | |
| ENST00000683860.1:c.902T>G | ENSP00000507179.1:p.Met301Arg | |
| ENST00000683884.1:c.902T>G | ENSP00000507004.1:p.Met301Arg | |
| ENST00000684041.1:c.902T>G | ENSP00000508382.1:p.Met301Arg | |
| ENST00000684125.1:c.902T>G | ENSP00000507320.1:p.Met301Arg | |
| ENST00000684203.1:n.2740T>G | ||
| ENST00000684231.1:c.*312T>G | ENSP00000507748.1:n.*312T>G | |
| ENST00000684263.1:c.902T>G | ENSP00000508369.1:p.Met301Arg | |
| ENST00000684305.1:c.1350T>G | ENSP00000506819.1:n.1350T>G | |
| ENST00000684415.1:c.902T>G | ENSP00000507227.1:p.Met301Arg | |
| ENST00000684520.1:c.902T>G | ENSP00000506826.1:p.Met301Arg | |
| ENST00000684602.1:c.*568T>G | ENSP00000507996.1:n.*568T>G | |
| ENST00000684667.1:c.1233T>G | ENSP00000507003.1:n.1233T>G | |
| ENST00000268097.10:c.902T>G MANE Select | ENSP00000268097.6:p.Met301Arg | |
| ENST00000268097.9:c.902T>G | ENSP00000268097.5:p.Met301Arg | |
| ENST00000379915.4:c.413-2838T>G | ENSP00000478716.1:n.413-2838T>G | |
| ENST00000563762.5:c.739-1029T>G | ENSP00000456346.1:n.739-1029T>G | |
| ENST00000566304.5:c.935T>G | ENSP00000455114.1:p.Met312Arg | |
| ENST00000566672.5:c.*312T>G | ENSP00000457037.1:n.*312T>G | |
| ENST00000567027.5:c.774T>G | ||
| ENST00000567159.5:c.902T>G | ENSP00000456489.1:p.Met301Arg | |
| ENST00000567411.5:c.*423T>G | ENSP00000455545.1:n.*423T>G | |
| ENST00000568777.5:n.6306T>G | ||
| ENST00000569410.5:c.902T>G | ENSP00000457125.1:p.Met301Arg | |
| NM_000520.4:c.902T>G | NP_000511.2:p.Met301Arg | |
| NM_000520.5:c.902T>G | NP_000511.2:p.Met301Arg | |
| NM_001318825.1:c.935T>G | NP_001305754.1:p.Met312Arg | |
| NR_134869.1:n.1403T>G | ||
| NM_000520.6:c.902T>G MANE Select | NP_000511.2:p.Met301Arg | |
| NM_001318825.2:c.935T>G | NP_001305754.1:p.Met312Arg | |
| NR_134869.2:n.944T>G | ||
| NR_134869.3:n.944T>G |