dbSNP:
MyVariant.info:
GRCh38
chr18:g.23931125G>T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23931125G>T , CM000680.2:g.23931125G>T | GRCh38 |
| NG_007853.2:g.246528G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269217.11:c.3673G>T MANE Plus Clinical | ENSP00000269217.5:p.Gly1225Cys | |
| ENST00000313654.14:c.8500G>T MANE Select | ENSP00000324532.8:p.Gly2834Cys | |
| ENST00000649721.1:c.5095G>T | ENSP00000497885.1:p.Gly1699Cys | |
| ENST00000269217.10:c.3673G>T | ENSP00000269217.5:p.Gly1225Cys | |
| ENST00000313654.13:c.8500G>T | ENSP00000324532.8:p.Gly2834Cys | |
| ENST00000399516.7:c.8332G>T | ENSP00000382432.2:p.Gly2778Cys | |
| ENST00000586751.5:c.3278G>T | ||
| ENST00000587184.5:c.3505G>T | ENSP00000466557.1:p.Gly1169Cys | |
| ENST00000588164.2:c.205G>T | ENSP00000467473.2:p.Gly69Cys | |
| ENST00000588770.5:n.3078G>T | ||
| NM_000227.4:c.3673G>T | NP_000218.3:p.Gly1225Cys | |
| NM_001127717.2:c.8332G>T | NP_001121189.2:p.Gly2778Cys | |
| NM_001127718.2:c.3505G>T | NP_001121190.2:p.Gly1169Cys | |
| NM_198129.2:c.8500G>T | NP_937762.2:p.Gly2834Cys | |
| XM_011525978.1:c.8527G>T | XP_011524280.1:p.Gly2843Cys | |
| XM_011525979.1:c.8518G>T | XP_011524281.1:p.Gly2840Cys | |
| XM_011525980.1:c.8509G>T | XP_011524282.1:p.Gly2837Cys | |
| XM_011525981.1:c.8395G>T | XP_011524283.1:p.Gly2799Cys | |
| XM_011525982.1:c.8230G>T | XP_011524284.1:p.Gly2744Cys | |
| XM_011525978.2:c.8527G>T | XP_011524280.1:p.Gly2843Cys | |
| XM_011525979.2:c.8518G>T | XP_011524281.1:p.Gly2840Cys | |
| XM_011525980.2:c.8509G>T | XP_011524282.1:p.Gly2837Cys | |
| XM_011525981.2:c.8395G>T | XP_011524283.1:p.Gly2799Cys | |
| XM_011525982.2:c.8230G>T | XP_011524284.1:p.Gly2744Cys | |
| XM_017025743.1:c.6379G>T | XP_016881232.1:p.Gly2127Cys | |
| XM_017025744.1:c.4069G>T | XP_016881233.1:p.Gly1357Cys | |
| XR_001753199.1:n.8768G>T | ||
| NM_000227.5:c.3673G>T | NP_000218.3:p.Gly1225Cys | |
| NM_001127717.3:c.8332G>T | NP_001121189.2:p.Gly2778Cys | |
| NM_001127718.3:c.3505G>T | NP_001121190.2:p.Gly1169Cys | |
| NM_198129.3:c.8500G>T | NP_937762.2:p.Gly2834Cys | |
| NM_000227.6:c.3673G>T MANE Plus Clinical | NP_000218.3:p.Gly1225Cys | |
| NM_001127717.4:c.8332G>T | NP_001121189.2:p.Gly2778Cys | |
| NM_001127718.4:c.3505G>T | NP_001121190.2:p.Gly1169Cys | |
| NM_198129.4:c.8500G>T MANE Select | NP_937762.2:p.Gly2834Cys |