Linked Data
ClinVar Variation Id:
133307
ClinVar RCV Id:
RCV000119818
dbSNP Id:
rs483353060
PubMed:
PMID:25991456
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37022100T>G , CM000667.2:g.37022100T>G | GRCh38 |
| NC_000005.9:g.37022202T>G , CM000667.1:g.37022202T>G | GRCh37 |
| NC_000005.8:g.37057959T>G | NCBI36 |
| NG_006987.1:g.150218T>G | |
| NG_006987.2:g.150218T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282516.13:c.5378T>G MANE Select | ENSP00000282516.8:p.Met1793Arg | |
| ENST00000652901.1:c.5378T>G | ENSP00000499536.1:p.Met1793Arg | |
| ENST00000282516.12:c.5378T>G | ENSP00000282516.8:p.Met1793Arg | |
| ENST00000448238.2:c.5378T>G | ENSP00000406266.2:p.Met1793Arg | |
| ENST00000621733.1:c.1-42478T>G | ENSP00000480694.1:n.1-42478T>G | |
| NM_015384.4:c.5378T>G | NP_056199.2:p.Met1793Arg | |
| NM_133433.3:c.5378T>G | NP_597677.2:p.Met1793Arg | |
| XM_005248280.2:c.5378T>G | XP_005248337.1:p.Met1793Arg | |
| XM_005248282.3:c.4634T>G | XP_005248339.2:p.Met1545Arg | |
| XM_006714467.2:c.5378T>G | XP_006714530.1:p.Met1793Arg | |
| XM_006714468.1:c.5180T>G | XP_006714531.1:p.Met1727Arg | |
| XM_011514014.1:c.4997T>G | XP_011512316.1:p.Met1666Arg | |
| XM_011514015.1:c.5378T>G | XP_011512317.1:p.Met1793Arg | |
| XM_005248280.3:c.5378T>G | XP_005248337.1:p.Met1793Arg | |
| XM_005248282.5:c.4718T>G | XP_005248339.3:p.Met1573Arg | |
| XM_006714468.2:c.5180T>G | XP_006714531.1:p.Met1727Arg | |
| XM_017009329.1:c.5378T>G | XP_016864818.1:p.Met1793Arg | |
| XM_017009330.2:c.3761T>G | XP_016864819.1:p.Met1254Arg | |
| XM_017009331.1:c.3752T>G | XP_016864820.1:p.Met1251Arg | |
| NM_133433.4:c.5378T>G MANE Select | NP_597677.2:p.Met1793Arg | |
| NM_015384.5:c.5378T>G | NP_056199.2:p.Met1793Arg |