gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003381 (AFR)
Genomes Max Group AF
0.00006346 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77683870A>G , CM000685.2:g.77683870A>G | GRCh38 |
| NC_000023.10:g.76939362A>G , CM000685.1:g.76939362A>G | GRCh37 |
| NC_000023.9:g.76826018A>G | NCBI36 |
| NG_008838.2:g.107352T>C | |
| NG_008838.3:g.107400T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.1386T>C MANE Select | ENSP00000362441.4:p.Ala462= | |
| ENST00000373344.9:c.1386T>C | ENSP00000362441.4:p.Ala462= | |
| ENST00000395603.7:c.1272T>C | ENSP00000378967.3:p.Ala424= | |
| ENST00000480283.5:c.*1014T>C | ENSP00000480196.1:n.*1014T>C | |
| ENST00000623321.3:c.1221T>C | ENSP00000485127.1:p.Ala407= | |
| ENST00000624032.3:c.1386T>C | ENSP00000485253.1:p.Ala462= | |
| ENST00000624166.3:c.1269T>C | ENSP00000485103.1:p.Ala423= | |
| NM_000489.4:c.1386T>C | NP_000480.3:p.Ala462= | |
| NM_138270.3:c.1272T>C | NP_612114.2:p.Ala424= | |
| XM_005262153.3:c.1383T>C | XP_005262210.2:p.Ala461= | |
| XM_005262154.3:c.1386T>C | XP_005262211.2:p.Ala462= | |
| XM_005262155.3:c.1269T>C | XP_005262212.2:p.Ala423= | |
| XM_005262156.3:c.1221T>C | XP_005262213.2:p.Ala407= | |
| XM_005262157.3:c.1269T>C | XP_005262214.2:p.Ala423= | |
| XM_006724666.2:c.1269T>C | XP_006724729.1:p.Ala423= | |
| XM_006724667.2:c.1107T>C | XP_006724730.1:p.Ala369= | |
| XM_006724668.2:c.1386T>C | XP_006724731.1:p.Ala462= | |
| XR_938400.1:n.1654T>C | ||
| NM_000489.5:c.1386T>C | NP_000480.3:p.Ala462= | |
| XM_005262153.5:c.1383T>C | XP_005262210.2:p.Ala461= | |
| XM_005262154.5:c.1386T>C | XP_005262211.2:p.Ala462= | |
| XM_005262155.4:c.1269T>C | XP_005262212.2:p.Ala423= | |
| XM_005262156.4:c.1221T>C | XP_005262213.2:p.Ala407= | |
| XM_005262157.5:c.1269T>C | XP_005262214.2:p.Ala423= | |
| XM_006724666.4:c.1269T>C | XP_006724729.1:p.Ala423= | |
| XM_006724667.3:c.1107T>C | XP_006724730.1:p.Ala369= | |
| XM_006724668.3:c.1386T>C | XP_006724731.1:p.Ala462= | |
| XM_017029601.2:c.1383T>C | XP_016885090.1:p.Ala461= | |
| XM_017029602.1:c.1266T>C | XP_016885091.1:p.Ala422= | |
| XM_017029603.1:c.1218T>C | XP_016885092.1:p.Ala406= | |
| XM_017029604.2:c.1272T>C | XP_016885093.1:p.Ala424= | |
| XM_017029605.1:c.1269T>C | XP_016885094.1:p.Ala423= | |
| XM_017029606.2:c.1155T>C | XP_016885095.1:p.Ala385= | |
| XM_017029607.2:c.1152T>C | XP_016885096.1:p.Ala384= | |
| XM_017029608.2:c.1104T>C | XP_016885097.1:p.Ala368= | |
| XM_017029609.1:c.1155T>C | XP_016885098.1:p.Ala385= | |
| XM_017029610.1:c.1152T>C | XP_016885099.1:p.Ala384= | |
| XM_017029611.1:c.1107T>C | XP_016885100.1:p.Ala369= | |
| XR_001755700.2:n.1611T>C | ||
| NM_138270.4:c.1272T>C | NP_612114.2:p.Ala424= | |
| NM_000489.6:c.1386T>C MANE Select | NP_000480.3:p.Ala462= | |
| NM_138270.5:c.1272T>C | NP_612114.2:p.Ala424= |