gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00084634 (SAS)
Genomes Max Group AF
0.0009212 (AMR)
Exomes Max Group AF
0.00086269 (SAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.169426231C>T , CM000666.2:g.169426231C>T | GRCh38 |
| NC_000004.11:g.170347382C>T , CM000666.1:g.170347382C>T | GRCh37 |
| NC_000004.10:g.170583957C>T | NCBI36 |
| NG_027982.1:g.191397G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685111.1:c.2721G>A | ENSP00000508844.1:p.Ser907= | |
| ENST00000685677.1:n.2187G>A | ||
| ENST00000686697.1:c.2406G>A | ENSP00000508689.1:p.Ser802= | |
| ENST00000687054.1:n.3383G>A | ||
| ENST00000687528.1:c.*1624G>A | ENSP00000510228.1:n.*1624G>A | |
| ENST00000687643.1:c.2832G>A | ENSP00000509309.1:p.Ser944= | |
| ENST00000688934.1:c.912G>A | ENSP00000510760.1:p.Ser304= | |
| ENST00000690540.1:n.2339G>A | ||
| ENST00000507142.6:c.2889G>A MANE Select | ENSP00000424757.2:p.Ser963= | |
| ENST00000638824.1:n.1017G>A | ||
| ENST00000439128.6:c.2805G>A | ENSP00000408020.2:p.Ser935= | |
| ENST00000507142.5:c.2889G>A | ENSP00000424757.1:p.Ser963= | |
| ENST00000510533.5:c.2673G>A | ENSP00000427653.1:p.Ser891= | |
| ENST00000511633.5:c.2757G>A | ENSP00000423332.1:p.Ser919= | |
| ENST00000512193.5:c.2598G>A | ENSP00000424938.1:p.Ser866= | |
| NM_001199397.1:c.2889G>A | NP_001186326.1:p.Ser963= | |
| NM_001199398.1:c.2757G>A | NP_001186327.1:p.Ser919= | |
| NM_001199399.1:c.2598G>A | NP_001186328.1:p.Ser866= | |
| NM_001199400.1:c.2673G>A | NP_001186329.1:p.Ser891= | |
| NM_012224.2:c.2805G>A | NP_036356.1:p.Ser935= | |
| XM_006714228.1:c.2712G>A | XP_006714291.1:p.Ser904= | |
| XM_011532003.1:c.2805G>A | XP_011530305.1:p.Ser935= | |
| XM_011532004.1:c.2673G>A | XP_011530306.1:p.Ser891= | |
| XM_017008249.1:c.2268G>A | XP_016863738.1:p.Ser756= | |
| XM_017008251.1:c.2184G>A | XP_016863740.1:p.Ser728= | |
| XM_017008252.2:c.2184G>A | XP_016863741.1:p.Ser728= | |
| XM_017008253.1:c.1737G>A | XP_016863742.1:p.Ser579= | |
| XM_017008254.1:c.1533G>A | XP_016863743.1:p.Ser511= | |
| XM_024454065.1:c.2268G>A | XP_024309833.1:p.Ser756= | |
| XR_001741233.1:n.3174G>A | ||
| NM_001199397.3:c.2889G>A MANE Select | NP_001186326.1:p.Ser963= | |
| NM_001199398.2:c.2757G>A | NP_001186327.1:p.Ser919= | |
| NM_001199399.2:c.2598G>A | NP_001186328.1:p.Ser866= | |
| NM_001199400.2:c.2673G>A | NP_001186329.1:p.Ser891= | |
| NM_001374418.1:c.2889G>A | NP_001361347.1:p.Ser963= | |
| NM_001374419.1:c.2805G>A | NP_001361348.1:p.Ser935= | |
| NM_001374420.1:c.2754G>A | NP_001361349.1:p.Ser918= | |
| NM_001374421.1:c.2406G>A | NP_001361350.1:p.Ser802= | |
| NM_012224.3:c.2805G>A | NP_036356.1:p.Ser935= | |
| NR_164630.1:n.3351G>A | ||
| NM_001199398.3:c.2757G>A | NP_001186327.1:p.Ser919= | |
| NM_001199399.3:c.2598G>A | NP_001186328.1:p.Ser866= | |
| NM_001199400.3:c.2673G>A | NP_001186329.1:p.Ser891= | |
| NM_012224.4:c.2805G>A | NP_036356.1:p.Ser935= |