gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003262 (NFE)
Genomes Max Group AF
0.00003762 (NFE)
Exomes Max Group AF
0.00003002 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.34834426C>T , CM000669.2:g.34834426C>T | GRCh38 |
| NC_000007.13:g.34874038C>T , CM000669.1:g.34874038C>T | GRCh37 |
| NC_000007.12:g.34840563C>T | NCBI36 |
| NG_012185.1:g.181142C>T | |
| NG_021366.1:g.4906G>A | |
| NG_012185.2:g.181142C>T | |
| NG_021366.2:g.4906G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360581.6:c.723C>T MANE Select | ENSP00000353788.1:p.Ser241= | |
| ENST00000359791.5:c.723C>T | ENSP00000352839.1:p.Ser241= | |
| ENST00000360581.5:c.723C>T | ENSP00000353788.1:p.Ser241= | |
| ENST00000381539.3:c.723C>T | ENSP00000370950.3:p.Ser241= | |
| ENST00000381542.5:c.525C>T | ENSP00000370953.1:p.Ser175= | |
| ENST00000381544.6:c.*142C>T | ENSP00000370955.2:n.*142C>T | |
| ENST00000396095.6:c.*218C>T | ENSP00000379402.2:n.*218C>T | |
| ENST00000531252.5:c.690C>T | ENSP00000433258.1:p.Ser230= | |
| NM_001300933.1:c.690C>T | NP_001287862.1:p.Ser230= | |
| NM_001300934.1:c.525C>T | NP_001287863.1:p.Ser175= | |
| NM_001300935.1:c.723C>T | NP_001287864.1:p.Ser241= | |
| NM_207172.1:c.723C>T | NP_997055.1:p.Ser241= | |
| NM_207173.1:c.723C>T | NP_997056.1:p.Ser241= | |
| NM_001300933.2:c.690C>T | NP_001287862.1:p.Ser230= | |
| NM_207172.2:c.723C>T MANE Select | NP_997055.1:p.Ser241= | |
| NM_207173.2:c.723C>T | NP_997056.1:p.Ser241= | |
| NM_001300934.2:c.525C>T | NP_001287863.1:p.Ser175= | |
| NM_001300935.2:c.723C>T | NP_001287864.1:p.Ser241= |