gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00043661 (SAS)
Genomes Max Group AF
0.00028344 (SAS)
Exomes Max Group AF
0.00042064 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.96121683G>A , CM000669.2:g.96121683G>A | GRCh38 |
| NC_000007.13:g.95750995G>A , CM000669.1:g.95750995G>A | GRCh37 |
| NC_000007.12:g.95588931G>A | NCBI36 |
| NG_012247.1:g.205465C>T | |
| NG_012247.2:g.205465C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265631.10:c.1813C>T MANE Select | ENSP00000265631.6:p.Arg605Ter | |
| ENST00000265631.9:c.1813C>T | ENSP00000265631.5:p.Arg605Ter | |
| ENST00000416240.6:c.1816C>T | ENSP00000400101.2:p.Arg606Ter | |
| ENST00000494085.1:n.316C>T | ||
| NM_001160210.1:c.1816C>T | NP_001153682.1:p.Arg606Ter | |
| NM_014251.2:c.1813C>T | NP_055066.1:p.Arg605Ter | |
| NR_027662.1:n.1888C>T | ||
| XM_006715831.2:c.1846C>T | XP_006715894.1:p.Arg616Ter | |
| XM_011515728.1:c.961C>T | XP_011514030.1:p.Arg321Ter | |
| XM_006715831.4:c.1846C>T | XP_006715894.1:p.Arg616Ter | |
| XM_017011663.1:c.1804C>T | XP_016867152.1:p.Arg602Ter | |
| XM_017011664.2:c.961C>T | XP_016867153.1:p.Arg321Ter | |
| XM_017011665.1:c.961C>T | XP_016867154.1:p.Arg321Ter | |
| XR_001744525.2:n.2059C>T | ||
| XR_002956405.1:n.2617C>T | ||
| NM_014251.3:c.1813C>T MANE Select | NP_055066.1:p.Arg605Ter | |
| NR_027662.2:n.1839C>T | ||
| NM_001160210.2:c.1816C>T | NP_001153682.1:p.Arg606Ter |