Revel Score:
ENST00000398051
0.063
ENST00000398052 (MANE Select)
0.063
ENST00000345167
0.063
ENST00000504933
0.063
gnomAD v4:
Joint Max Group AF
0.00001302 (NFE)
Exomes Max Group AF
0.00001382 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3004316C>G , CM000666.2:g.3004316C>G | GRCh38 |
| NC_000004.11:g.3006043C>G , CM000666.1:g.3006043C>G | GRCh37 |
| NC_000004.10:g.2975841C>G | NCBI36 |
| NG_029102.1:g.45701C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398052.9:c.425C>G MANE Select | ENSP00000381129.4:p.Ala142Gly | |
| ENST00000345167.10:c.329C>G | ENSP00000264764.8:p.Ala110Gly | |
| ENST00000398051.8:c.329C>G | ENSP00000381128.4:p.Ala110Gly | |
| ENST00000398052.8:c.425C>G | ENSP00000381129.4:p.Ala142Gly | |
| ENST00000504933.1:c.425C>G | ENSP00000427445.1:p.Ala142Gly | |
| NM_001004056.1:c.329C>G | NP_001004056.1:p.Ala110Gly | |
| NM_001004057.1:c.425C>G | NP_001004057.1:p.Ala142Gly | |
| NM_005307.2:c.329C>G | NP_005298.2:p.Ala110Gly | |
| NM_182982.2:c.425C>G | NP_892027.2:p.Ala142Gly | |
| XM_005247962.2:c.-209C>G | XP_005248019.1:n.-209C>G | |
| XM_006713880.2:c.-237C>G | XP_006713943.1:n.-237C>G | |
| XM_011513447.1:c.425C>G | XP_011511749.1:p.Ala142Gly | |
| XM_011513448.1:c.425C>G | XP_011511750.1:p.Ala142Gly | |
| XM_011513449.1:c.329C>G | XP_011511751.1:p.Ala110Gly | |
| XM_011513450.1:c.425C>G | XP_011511752.1:p.Ala142Gly | |
| XM_011513451.1:c.425C>G | XP_011511753.1:p.Ala142Gly | |
| XM_011513452.1:c.425C>G | XP_011511754.1:p.Ala142Gly | |
| XM_011513453.1:c.425C>G | XP_011511755.1:p.Ala142Gly | |
| XM_011513454.1:c.425C>G | XP_011511756.1:p.Ala142Gly | |
| XM_011513455.1:c.425C>G | XP_011511757.1:p.Ala142Gly | |
| XM_011513456.1:c.425C>G | XP_011511758.1:p.Ala142Gly | |
| XM_011513457.1:c.425C>G | XP_011511759.1:p.Ala142Gly | |
| XR_924941.1:n.991C>G | ||
| XR_924943.1:n.991C>G | ||
| NM_001350173.1:c.-122C>G | NP_001337102.1:n.-122C>G | |
| XM_005247962.3:c.-209C>G | XP_005248019.1:n.-209C>G | |
| XM_006713880.3:c.-237C>G | XP_006713943.1:n.-237C>G | |
| XM_011513447.2:c.425C>G | XP_011511749.1:p.Ala142Gly | |
| XM_011513448.2:c.425C>G | XP_011511750.1:p.Ala142Gly | |
| XM_011513449.2:c.329C>G | XP_011511751.1:p.Ala110Gly | |
| XM_011513450.2:c.425C>G | XP_011511752.1:p.Ala142Gly | |
| XM_011513451.2:c.425C>G | XP_011511753.1:p.Ala142Gly | |
| XM_011513452.2:c.425C>G | XP_011511754.1:p.Ala142Gly | |
| XM_011513453.2:c.425C>G | XP_011511755.1:p.Ala142Gly | |
| XM_011513454.2:c.425C>G | XP_011511756.1:p.Ala142Gly | |
| XM_011513455.2:c.425C>G | XP_011511757.1:p.Ala142Gly | |
| XM_011513456.2:c.425C>G | XP_011511758.1:p.Ala142Gly | |
| XM_011513457.2:c.425C>G | XP_011511759.1:p.Ala142Gly | |
| XM_017008052.1:c.347C>G | XP_016863541.1:p.Ala116Gly | |
| XM_017008053.1:c.425C>G | XP_016863542.1:p.Ala142Gly | |
| XM_017008054.1:c.425C>G | XP_016863543.1:p.Ala142Gly | |
| XM_017008055.1:c.329C>G | XP_016863544.1:p.Ala110Gly | |
| XM_017008056.1:c.425C>G | XP_016863545.1:p.Ala142Gly | |
| XM_017008057.1:c.-94C>G | XP_016863546.1:n.-94C>G | |
| XM_017008058.1:c.-146C>G | XP_016863547.1:n.-146C>G | |
| XM_017008059.2:c.-94C>G | XP_016863548.1:n.-94C>G | |
| XM_017008062.1:c.-209C>G | XP_016863551.1:n.-209C>G | |
| XM_017008063.1:c.-94C>G | XP_016863552.1:n.-94C>G | |
| XM_017008064.1:c.-94C>G | XP_016863553.1:n.-94C>G | |
| XM_017008065.1:c.425C>G | XP_016863554.1:p.Ala142Gly | |
| XM_017008066.1:c.-94C>G | XP_016863555.1:n.-94C>G | |
| XM_024454015.1:c.-94C>G | XP_024309783.1:n.-94C>G | |
| XR_001741210.1:n.992C>G | ||
| XR_001741211.1:n.992C>G | ||
| XR_924941.2:n.992C>G | ||
| XR_924943.2:n.992C>G | ||
| NM_182982.3:c.425C>G MANE Select | NP_892027.2:p.Ala142Gly | |
| NM_001004056.2:c.329C>G | NP_001004056.1:p.Ala110Gly | |
| NM_001004057.2:c.425C>G | NP_001004057.1:p.Ala142Gly | |
| NM_001350173.2:c.-122C>G | NP_001337102.1:n.-122C>G | |
| NM_005307.3:c.329C>G | NP_005298.2:p.Ala110Gly |