gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01859852 (NFE)
Genomes Max Group AF
0.01655165 (NFE)
Exomes Max Group AF
0.0186793 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.206138506C>T , CM000664.2:g.206138506C>T | GRCh38 |
| NC_000002.11:g.207003230C>T , CM000664.1:g.207003230C>T | GRCh37 |
| NC_000002.10:g.206711475C>T | NCBI36 |
| NG_009248.1:g.25958G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233190.11:c.1371G>A MANE Select | ENSP00000233190.5:p.Ser457= | |
| ENST00000233190.10:c.1371G>A | ENSP00000233190.5:p.Ser457= | |
| ENST00000423725.5:c.1200G>A | ENSP00000397760.1:p.Ser400= | |
| ENST00000432169.5:c.1038G>A | ENSP00000409689.1:p.Ser346= | |
| ENST00000440274.5:c.1263G>A | ENSP00000409766.1:p.Ser421= | |
| ENST00000449699.5:c.1371G>A | ENSP00000399912.1:p.Ser457= | |
| ENST00000455934.6:c.1413G>A | ENSP00000392709.2:p.Ser471= | |
| ENST00000457011.5:c.1023G>A | ENSP00000400976.1:p.Ser341= | |
| NM_001199981.1:c.1263G>A | NP_001186910.1:p.Ser421= | |
| NM_001199982.1:c.1038G>A | NP_001186911.1:p.Ser346= | |
| NM_001199983.1:c.1200G>A | NP_001186912.1:p.Ser400= | |
| NM_001199984.1:c.1413G>A | NP_001186913.1:p.Ser471= | |
| NM_005006.6:c.1371G>A | NP_004997.4:p.Ser457= | |
| XM_017004188.2:c.612G>A | XP_016859677.1:p.Ser204= | |
| NM_001199981.2:c.1263G>A | NP_001186910.1:p.Ser421= | |
| NM_001199982.2:c.1038G>A | NP_001186911.1:p.Ser346= | |
| NM_001199983.2:c.1200G>A | NP_001186912.1:p.Ser400= | |
| NM_005006.7:c.1371G>A MANE Select | NP_004997.4:p.Ser457= | |
| NM_001199984.2:c.1413G>A | NP_001186913.1:p.Ser471= |