ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007506 (SAS)
Exomes Max Group AF
0.00007124 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.10918500G>C , CM000678.2:g.10918500G>C | GRCh38 |
| NC_000016.9:g.11012357G>C , CM000678.1:g.11012357G>C | GRCh37 |
| NC_000016.8:g.10919858G>C | NCBI36 |
| NG_009628.1:g.46303G>C , LRG_49:g.46303G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324288.14:c.3123G>C MANE Select | ENSP00000316328.8:p.Ser1041= | |
| ENST00000324288.12:c.3123G>C | ENSP00000316328.8:p.Ser1041= | |
| ENST00000381835.9:c.1371G>C | ENSP00000371257.5:p.Ser457= | |
| ENST00000570546.5:n.4123G>C | ||
| ENST00000618207.4:c.*251G>C | ENSP00000484761.1:n.*251G>C | |
| ENST00000618327.4:c.3126G>C | ENSP00000485010.1:p.Ser1042= | |
| NM_000246.3:c.3123G>C , LRG_49t1:c.3123G>C | NP_000237.2:p.Ser1041= | |
| NM_001286402.1:c.3126G>C | NP_001273331.1:p.Ser1042= | |
| NM_001286403.1:c.1371G>C | NP_001273332.1:p.Ser457= | |
| NR_104444.1:n.1446G>C | ||
| XM_006720880.2:c.3420G>C | XP_006720943.2:p.Ser1140= | |
| XM_011522484.1:c.3420G>C | XP_011520786.1:p.Ser1140= | |
| XM_011522485.1:c.3420G>C | XP_011520787.1:p.Ser1140= | |
| XM_011522486.1:c.3420G>C | XP_011520788.1:p.Ser1140= | |
| XM_011522487.1:c.3174G>C | XP_011520789.1:p.Ser1058= | |
| XM_011522488.1:c.3171G>C | XP_011520790.1:p.Ser1057= | |
| XM_011522489.1:c.3171G>C | XP_011520791.1:p.Ser1057= | |
| XM_011522490.1:c.3168G>C | XP_011520792.1:p.Ser1056= | |
| XM_011522492.1:c.3126G>C | XP_011520794.1:p.Ser1042= | |
| XM_011522493.1:c.3123G>C | XP_011520795.1:p.Ser1041= | |
| XM_011522494.1:c.3054G>C | XP_011520796.1:p.Ser1018= | |
| XM_011522495.1:c.2979G>C | XP_011520797.1:p.Ser993= | |
| XM_011522496.1:c.2976G>C | XP_011520798.1:p.Ser992= | |
| XR_932841.1:n.3435G>C | ||
| XR_932842.1:n.3435G>C | ||
| XR_932843.1:n.3435G>C | ||
| XR_932846.1:n.3481G>C | ||
| XR_932848.1:n.1521G>C | ||
| XM_006720880.3:c.3420G>C | XP_006720943.2:p.Ser1140= | |
| XM_011522484.3:c.3420G>C | XP_011520786.1:p.Ser1140= | |
| XM_011522485.2:c.3420G>C | XP_011520787.1:p.Ser1140= | |
| XM_011522486.2:c.3420G>C | XP_011520788.1:p.Ser1140= | |
| XM_011522487.2:c.3174G>C | XP_011520789.1:p.Ser1058= | |
| XM_011522488.2:c.3171G>C | XP_011520790.1:p.Ser1057= | |
| XM_011522489.2:c.3171G>C | XP_011520791.1:p.Ser1057= | |
| XM_011522490.2:c.3168G>C | XP_011520792.1:p.Ser1056= | |
| XM_011522492.2:c.3126G>C | XP_011520794.1:p.Ser1042= | |
| XM_011522493.2:c.3123G>C | XP_011520795.1:p.Ser1041= | |
| XM_011522494.2:c.3054G>C | XP_011520796.1:p.Ser1018= | |
| XM_011522495.2:c.2979G>C | XP_011520797.1:p.Ser993= | |
| XM_011522496.2:c.2976G>C | XP_011520798.1:p.Ser992= | |
| XM_024450280.1:c.3366G>C | XP_024306048.1:p.Ser1122= | |
| XM_024450281.1:c.3219G>C | XP_024306049.1:p.Ser1073= | |
| XR_001751904.1:n.3485G>C | ||
| XR_932841.3:n.3437G>C | ||
| XR_932842.2:n.3437G>C | ||
| XR_932846.3:n.3485G>C | ||
| NM_001286403.2:c.1371G>C | NP_001273332.1:p.Ser457= | |
| NR_104444.2:n.1442G>C | ||
| NM_000246.4:c.3123G>C MANE Select | NP_000237.2:p.Ser1041= | |
| NM_001379330.1:c.2979G>C | NP_001366259.1:p.Ser993= | |
| NM_001379331.1:c.2976G>C | NP_001366260.1:p.Ser992= | |
| NM_001379332.1:c.3126G>C | NP_001366261.1:p.Ser1042= | |
| NM_001379333.1:c.3123G>C | NP_001366262.1:p.Ser1041= | |
| NM_001379334.1:c.3054G>C | NP_001366263.1:p.Ser1018= |