gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00178594 (MID)
Genomes Max Group AF
0.00028298 (SAS)
Exomes Max Group AF
0.0018771 (MID)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33169867T>C , CM000668.2:g.33169867T>C | GRCh38 |
| NC_000006.11:g.33137644T>C , CM000668.1:g.33137644T>C | GRCh37 |
| NC_000006.10:g.33245622T>C | NCBI36 |
| NG_011589.1:g.27602A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341947.7:c.3654A>G MANE Select | ENSP00000339915.2:p.Ser1218= | |
| ENST00000341947.6:c.3654A>G | ENSP00000339915.2:p.Ser1218= | |
| ENST00000361917.5:c.3333A>G | ENSP00000355123.1:p.Ser1111= | |
| ENST00000374708.8:c.3396A>G | ENSP00000363840.4:p.Ser1132= | |
| ENST00000477772.1:n.273-4051A>G | ||
| NM_080679.2:c.3333A>G | NP_542410.2:p.Ser1111= | |
| NM_080680.2:c.3654A>G | NP_542411.2:p.Ser1218= | |
| NM_080681.2:c.3396A>G | NP_542412.2:p.Ser1132= | |
| XM_011514298.1:c.2808A>G | XP_011512600.1:p.Ser936= | |
| XM_011514299.1:c.2940A>G | XP_011512601.1:p.Ser980= | |
| XM_011514300.1:c.2760A>G | XP_011512602.1:p.Ser920= | |
| XM_011514301.1:c.2697A>G | XP_011512603.1:p.Ser899= | |
| XM_011514302.1:c.2541A>G | XP_011512604.1:p.Ser847= | |
| XM_011514299.2:c.2940A>G | XP_011512601.1:p.Ser980= | |
| XM_011514300.2:c.2760A>G | XP_011512602.1:p.Ser920= | |
| XM_011514302.2:c.2541A>G | XP_011512604.1:p.Ser847= | |
| XM_017010250.1:c.3654A>G | XP_016865739.1:p.Ser1218= | |
| XM_017010251.2:c.2472A>G | XP_016865740.1:p.Ser824= | |
| NM_080680.3:c.3654A>G MANE Select | NP_542411.2:p.Ser1218= | |
| NM_080681.3:c.3396A>G | NP_542412.2:p.Ser1132= | |
| NM_080679.3:c.3333A>G | NP_542410.2:p.Ser1111= |