dbSNP:
gnomAD v2:
gnomAD v4:
Revel Score:
ENST00000265631 (MANE Select)
0.533
ENST00000416240
0.533
ENST00000542654
0.533
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.96184990G>C , CM000669.2:g.96184990G>C | GRCh38 |
| NC_000007.13:g.95814302G>C , CM000669.1:g.95814302G>C | GRCh37 |
| NC_000007.12:g.95652238G>C | NCBI36 |
| NG_012247.1:g.142158C>G | |
| NG_012247.2:g.142158C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265631.10:c.955C>G MANE Select | ENSP00000265631.6:p.Arg319Gly | |
| ENST00000265631.9:c.955C>G | ENSP00000265631.5:p.Arg319Gly | |
| ENST00000416240.6:c.958C>G | ENSP00000400101.2:p.Arg320Gly | |
| ENST00000484495.5:n.108C>G | ||
| ENST00000490072.5:n.22C>G | ||
| NM_001160210.1:c.958C>G | NP_001153682.1:p.Arg320Gly | |
| NM_014251.2:c.955C>G | NP_055066.1:p.Arg319Gly | |
| NR_027662.1:n.1030C>G | ||
| XM_006715831.2:c.988C>G | XP_006715894.1:p.Arg330Gly | |
| XM_011515727.1:c.988C>G | XP_011514029.1:p.Arg330Gly | |
| XM_011515728.1:c.103C>G | XP_011514030.1:p.Arg35Gly | |
| XM_006715831.4:c.988C>G | XP_006715894.1:p.Arg330Gly | |
| XM_011515727.3:c.988C>G | XP_011514029.1:p.Arg330Gly | |
| XM_017011663.1:c.946C>G | XP_016867152.1:p.Arg316Gly | |
| XM_017011664.2:c.103C>G | XP_016867153.1:p.Arg35Gly | |
| XM_017011665.1:c.103C>G | XP_016867154.1:p.Arg35Gly | |
| XR_001744525.2:n.1126C>G | ||
| XR_002956405.1:n.1268C>G | ||
| NM_014251.3:c.955C>G MANE Select | NP_055066.1:p.Arg319Gly | |
| NR_027662.2:n.981C>G | ||
| NM_001160210.2:c.958C>G | NP_001153682.1:p.Arg320Gly |