dbSNP:
Revel Score:
ENST00000413539
0.687
ENST00000409762
0.687
ENST00000409582
0.687
ENST00000429174
0.687
ENST00000258104 (MANE Plus Clinical)
0.687
ENST00000409651
0.687
ENST00000394120
0.687
ENST00000409744
0.687
ENST00000409366
0.687
ENST00000410020 (MANE Select)
0.687
ENST00000410041
0.687
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71682597C>G , CM000664.2:g.71682597C>G | GRCh38 |
| NC_000002.11:g.71909727C>G , CM000664.1:g.71909727C>G | GRCh37 |
| NC_000002.10:g.71763235C>G | NCBI36 |
| NG_008694.1:g.233975C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698057.1:c.3655C>G | ENSP00000513536.1:p.Arg1219Gly | |
| ENST00000698058.1:c.2872C>G | ENSP00000513537.1:p.Arg958Gly | |
| ENST00000698059.1:c.2980C>G | ENSP00000513538.1:p.Arg994Gly | |
| ENST00000258104.8:c.6124C>G MANE Plus Clinical | ENSP00000258104.3:p.Arg2042Gly | |
| ENST00000410020.8:c.6241C>G MANE Select | ENSP00000386881.3:p.Arg2081Gly | |
| ENST00000258104.7:c.6124C>G | ENSP00000258104.3:p.Arg2042Gly | |
| ENST00000394120.6:c.6127C>G | ENSP00000377678.2:p.Arg2043Gly | |
| ENST00000409366.5:c.6190C>G | ENSP00000386512.1:p.Arg2064Gly | |
| ENST00000409582.7:c.6238C>G | ENSP00000386547.3:p.Arg2080Gly | |
| ENST00000409651.5:c.6220C>G | ENSP00000386683.1:p.Arg2074Gly | |
| ENST00000409744.5:c.6148C>G | ENSP00000386285.1:p.Arg2050Gly | |
| ENST00000409762.5:c.6175C>G | ENSP00000387137.1:p.Arg2059Gly | |
| ENST00000410020.7:c.6241C>G | ENSP00000386881.3:p.Arg2081Gly | |
| ENST00000410041.1:c.6178C>G | ENSP00000386617.1:p.Arg2060Gly | |
| ENST00000413539.6:c.6217C>G | ENSP00000407046.2:p.Arg2073Gly | |
| ENST00000429174.6:c.6187C>G | ENSP00000398305.2:p.Arg2063Gly | |
| ENST00000479049.6:n.3009C>G | ||
| NM_001130455.1:c.6127C>G | NP_001123927.1:p.Arg2043Gly | |
| NM_001130976.1:c.6082C>G | NP_001124448.1:p.Arg2028Gly | |
| NM_001130977.1:c.6145C>G | NP_001124449.1:p.Arg2049Gly | |
| NM_001130978.1:c.6187C>G | NP_001124450.1:p.Arg2063Gly | |
| NM_001130979.1:c.6217C>G | NP_001124451.1:p.Arg2073Gly | |
| NM_001130980.1:c.6175C>G | NP_001124452.1:p.Arg2059Gly | |
| NM_001130981.1:c.6238C>G | NP_001124453.1:p.Arg2080Gly | |
| NM_001130982.1:c.6220C>G | NP_001124454.1:p.Arg2074Gly | |
| NM_001130983.1:c.6190C>G | NP_001124455.1:p.Arg2064Gly | |
| NM_001130984.1:c.6148C>G | NP_001124456.1:p.Arg2050Gly | |
| NM_001130985.1:c.6178C>G | NP_001124457.1:p.Arg2060Gly | |
| NM_001130986.1:c.6085C>G | NP_001124458.1:p.Arg2029Gly | |
| NM_001130987.1:c.6241C>G | NP_001124459.1:p.Arg2081Gly | |
| NM_003494.3:c.6124C>G | NP_003485.1:p.Arg2042Gly | |
| XM_005264584.3:c.6283C>G | XP_005264641.1:p.Arg2095Gly | |
| XM_005264585.3:c.6280C>G | XP_005264642.1:p.Arg2094Gly | |
| XM_005264584.4:c.6283C>G | XP_005264641.1:p.Arg2095Gly | |
| XM_005264585.5:c.6280C>G | XP_005264642.1:p.Arg2094Gly | |
| NM_001130987.2:c.6241C>G MANE Select | NP_001124459.1:p.Arg2081Gly | |
| NM_001130455.2:c.6127C>G | NP_001123927.1:p.Arg2043Gly | |
| NM_001130976.2:c.6082C>G | NP_001124448.1:p.Arg2028Gly | |
| NM_001130977.2:c.6145C>G | NP_001124449.1:p.Arg2049Gly | |
| NM_001130978.2:c.6187C>G | NP_001124450.1:p.Arg2063Gly | |
| NM_001130979.2:c.6217C>G | NP_001124451.1:p.Arg2073Gly | |
| NM_001130980.2:c.6175C>G | NP_001124452.1:p.Arg2059Gly | |
| NM_001130981.2:c.6238C>G | NP_001124453.1:p.Arg2080Gly | |
| NM_001130982.2:c.6220C>G | NP_001124454.1:p.Arg2074Gly | |
| NM_001130983.2:c.6190C>G | NP_001124455.1:p.Arg2064Gly | |
| NM_001130984.2:c.6148C>G | NP_001124456.1:p.Arg2050Gly | |
| NM_001130985.2:c.6178C>G | NP_001124457.1:p.Arg2060Gly | |
| NM_001130986.2:c.6085C>G | NP_001124458.1:p.Arg2029Gly | |
| NM_003494.4:c.6124C>G MANE Plus Clinical | NP_003485.1:p.Arg2042Gly |