Linked Data
dbSNP Id:
rs575618725
ExAC:
10:127477450 T / C
gnomAD v2:
10-127477450-T-C
gnomAD v3:
10-125788881-T-C
gnomAD v4:
10-125788881-T-C
COSMIC:
COSM4647141
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.125788881T>C , CM000672.2:g.125788881T>C | GRCh38 |
| NC_000010.10:g.127477450T>C , CM000672.1:g.127477450T>C | GRCh37 |
| NC_000010.9:g.127467440T>C | NCBI36 |
| NG_011557.1:g.39388A>G | |
| NG_011557.2:g.39388A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713579.1:c.785A>G | ENSP00000518871.1:p.His262Arg | |
| ENST00000368797.10:c.785A>G MANE Select | ENSP00000357787.4:p.His262Arg | |
| ENST00000465577.6:c.805A>G | ||
| ENST00000648427.1:c.*783A>G | ENSP00000497909.1:n.*783A>G | |
| ENST00000649536.1:c.785A>G | ENSP00000497817.1:p.His262Arg | |
| ENST00000650472.1:n.3171A>G | ||
| ENST00000650524.1:c.698A>G | ENSP00000498108.1:n.698A>G | |
| ENST00000650587.1:c.866A>G | ENSP00000497366.1:p.His289Arg | |
| ENST00000368786.5:c.785A>G | ENSP00000357775.1:p.His262Arg | |
| ENST00000368797.8:c.785A>G | ENSP00000357787.4:p.His262Arg | |
| ENST00000464267.1:n.882A>G | ||
| ENST00000465577.5:n.427A>G | ||
| ENST00000470483.1:n.473A>G | ||
| ENST00000484541.5:n.558A>G | ||
| ENST00000616800.4:c.161-3621A>G | ||
| ENST00000622016.4:c.241-3042A>G | ENSP00000483041.1:n.241-3042A>G | |
| NM_000375.2:c.785A>G | NP_000366.1:p.His262Arg | |
| XM_005270137.2:c.866A>G | XP_005270194.1:p.His289Arg | |
| XM_005270138.2:c.785A>G | XP_005270195.1:p.His262Arg | |
| XM_005270139.2:c.661-3042A>G | XP_005270196.1:n.661-3042A>G | |
| XM_006717960.2:c.866A>G | XP_006718023.1:p.His289Arg | |
| XM_011540127.1:c.661-3621A>G | XP_011538429.1:n.661-3621A>G | |
| XR_246103.2:n.965A>G | ||
| XR_945810.1:n.1195A>G | ||
| NM_000375.3:c.785A>G MANE Select | NP_000366.1:p.His262Arg | |
| NM_001324036.1:c.866A>G | NP_001310965.1:p.His289Arg | |
| NM_001324037.1:c.785A>G | NP_001310966.1:p.His262Arg | |
| NM_001324038.1:c.704A>G | NP_001310967.1:p.His235Arg | |
| NR_136675.1:n.870A>G | ||
| NR_136676.1:n.1297A>G | ||
| NR_136677.1:n.927-3042A>G | ||
| NR_136678.1:n.781A>G | ||
| XM_011540127.2:c.661-3621A>G | XP_011538429.1:n.661-3621A>G | |
| XM_017016611.2:c.866A>G | XP_016872100.2:p.His289Arg | |
| XM_017016612.2:c.661-3042A>G | XP_016872101.1:n.661-3042A>G | |
| XM_024448154.1:c.785A>G | XP_024303922.1:p.His262Arg | |
| XR_002957010.1:n.2124A>G | ||
| XR_246103.3:n.980A>G | ||
| XR_945810.2:n.1210A>G | ||
| NM_001324036.2:c.866A>G | NP_001310965.1:p.His289Arg | |
| NM_001324037.2:c.785A>G | NP_001310966.1:p.His262Arg | |
| NM_001324038.2:c.704A>G | NP_001310967.1:p.His235Arg | |
| NR_136675.2:n.860A>G | ||
| NR_136676.2:n.1287A>G | ||
| NR_136678.2:n.771A>G | ||
| NR_136677.2:n.917-3042A>G |