Revel Score:
ENST00000265631 (MANE Select)
0.570
ENST00000416240
0.570
ENST00000542654
0.570
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.96121683G>C , CM000669.2:g.96121683G>C | GRCh38 |
| NC_000007.13:g.95750995G>C , CM000669.1:g.95750995G>C | GRCh37 |
| NC_000007.12:g.95588931G>C | NCBI36 |
| NG_012247.1:g.205465C>G | |
| NG_012247.2:g.205465C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265631.10:c.1813C>G MANE Select | ENSP00000265631.6:p.Arg605Gly | |
| ENST00000265631.9:c.1813C>G | ENSP00000265631.5:p.Arg605Gly | |
| ENST00000416240.6:c.1816C>G | ENSP00000400101.2:p.Arg606Gly | |
| ENST00000494085.1:n.316C>G | ||
| NM_001160210.1:c.1816C>G | NP_001153682.1:p.Arg606Gly | |
| NM_014251.2:c.1813C>G | NP_055066.1:p.Arg605Gly | |
| NR_027662.1:n.1888C>G | ||
| XM_006715831.2:c.1846C>G | XP_006715894.1:p.Arg616Gly | |
| XM_011515728.1:c.961C>G | XP_011514030.1:p.Arg321Gly | |
| XM_006715831.4:c.1846C>G | XP_006715894.1:p.Arg616Gly | |
| XM_017011663.1:c.1804C>G | XP_016867152.1:p.Arg602Gly | |
| XM_017011664.2:c.961C>G | XP_016867153.1:p.Arg321Gly | |
| XM_017011665.1:c.961C>G | XP_016867154.1:p.Arg321Gly | |
| XR_001744525.2:n.2059C>G | ||
| XR_002956405.1:n.2617C>G | ||
| NM_014251.3:c.1813C>G MANE Select | NP_055066.1:p.Arg605Gly | |
| NR_027662.2:n.1839C>G | ||
| NM_001160210.2:c.1816C>G | NP_001153682.1:p.Arg606Gly |