gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001299 (NFE)
Exomes Max Group AF
0.00001378 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23907639C>T , CM000680.2:g.23907639C>T | GRCh38 |
| NC_000018.9:g.21487603C>T , CM000680.1:g.21487603C>T | GRCh37 |
| NC_000018.8:g.19741601C>T | NCBI36 |
| NG_007853.2:g.223042C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269217.11:c.1981C>T MANE Plus Clinical | ENSP00000269217.5:p.Arg661Ter | |
| ENST00000313654.14:c.6808C>T MANE Select | ENSP00000324532.8:p.Arg2270Ter | |
| ENST00000649721.1:c.3611-1514C>T | ENSP00000497885.1:n.3611-1514C>T | |
| ENST00000269217.10:c.1981C>T | ENSP00000269217.5:p.Arg661Ter | |
| ENST00000313654.13:c.6808C>T | ENSP00000324532.8:p.Arg2270Ter | |
| ENST00000399516.7:c.6640C>T | ENSP00000382432.2:p.Arg2214Ter | |
| ENST00000586751.5:c.1586C>T | ||
| ENST00000587184.5:c.1813C>T | ENSP00000466557.1:p.Arg605Ter | |
| ENST00000588770.5:n.1386C>T | ||
| NM_000227.4:c.1981C>T | NP_000218.3:p.Arg661Ter | |
| NM_001127717.2:c.6640C>T | NP_001121189.2:p.Arg2214Ter | |
| NM_001127718.2:c.1813C>T | NP_001121190.2:p.Arg605Ter | |
| NM_198129.2:c.6808C>T | NP_937762.2:p.Arg2270Ter | |
| XM_011525978.1:c.6835C>T | XP_011524280.1:p.Arg2279Ter | |
| XM_011525979.1:c.6826C>T | XP_011524281.1:p.Arg2276Ter | |
| XM_011525980.1:c.6817C>T | XP_011524282.1:p.Arg2273Ter | |
| XM_011525981.1:c.6703C>T | XP_011524283.1:p.Arg2235Ter | |
| XM_011525982.1:c.6746-1514C>T | XP_011524284.1:n.6746-1514C>T | |
| XM_011525978.2:c.6835C>T | XP_011524280.1:p.Arg2279Ter | |
| XM_011525979.2:c.6826C>T | XP_011524281.1:p.Arg2276Ter | |
| XM_011525980.2:c.6817C>T | XP_011524282.1:p.Arg2273Ter | |
| XM_011525981.2:c.6703C>T | XP_011524283.1:p.Arg2235Ter | |
| XM_011525982.2:c.6746-1514C>T | XP_011524284.1:n.6746-1514C>T | |
| XM_017025743.1:c.4687C>T | XP_016881232.1:p.Arg1563Ter | |
| XM_017025744.1:c.2377C>T | XP_016881233.1:p.Arg793Ter | |
| XR_001753199.1:n.7076C>T | ||
| NM_000227.5:c.1981C>T | NP_000218.3:p.Arg661Ter | |
| NM_001127717.3:c.6640C>T | NP_001121189.2:p.Arg2214Ter | |
| NM_001127718.3:c.1813C>T | NP_001121190.2:p.Arg605Ter | |
| NM_198129.3:c.6808C>T | NP_937762.2:p.Arg2270Ter | |
| NM_000227.6:c.1981C>T MANE Plus Clinical | NP_000218.3:p.Arg661Ter | |
| NM_001127717.4:c.6640C>T | NP_001121189.2:p.Arg2214Ter | |
| NM_001127718.4:c.1813C>T | NP_001121190.2:p.Arg605Ter | |
| NM_198129.4:c.6808C>T MANE Select | NP_937762.2:p.Arg2270Ter |