gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00002104 (SAS)
Exomes Max Group AF
0.00002194 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16988207C>A , CM000663.2:g.16988207C>A | GRCh38 |
| NC_000001.10:g.17314702C>A , CM000663.1:g.17314702C>A | GRCh37 |
| NC_000001.9:g.17187289C>A | NCBI36 |
| NG_009054.1:g.28722G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326735.13:c.2790G>T MANE Select | ENSP00000327214.8:p.Ser930= | |
| ENST00000326735.12:c.2790G>T | ENSP00000327214.8:p.Ser930= | |
| ENST00000341676.9:c.2658G>T | ENSP00000341115.5:p.Ser886= | |
| ENST00000452699.5:c.2775G>T | ENSP00000413307.1:p.Ser925= | |
| ENST00000466561.1:n.664G>T | ||
| ENST00000502418.1:c.378G>T | ENSP00000423065.1:p.Ser126= | |
| NM_001141973.2:c.2775G>T | NP_001135445.1:p.Ser925= | |
| NM_001141974.2:c.2658G>T | NP_001135446.1:p.Ser886= | |
| NM_022089.3:c.2790G>T | NP_071372.1:p.Ser930= | |
| XM_005245809.1:c.2790G>T | XP_005245866.1:p.Ser930= | |
| XM_005245810.1:c.2787G>T | XP_005245867.1:p.Ser929= | |
| XM_005245811.1:c.2775G>T | XP_005245868.1:p.Ser925= | |
| XM_005245812.1:c.2763G>T | XP_005245869.1:p.Ser921= | |
| XM_005245813.1:c.2730G>T | XP_005245870.1:p.Ser910= | |
| XM_005245815.1:c.2673G>T | XP_005245872.1:p.Ser891= | |
| XM_006710512.1:c.2772G>T | XP_006710575.1:p.Ser924= | |
| XM_006710513.1:c.2748G>T | XP_006710576.1:p.Ser916= | |
| XM_011541128.1:c.2775G>T | XP_011539430.1:p.Ser925= | |
| XM_011541129.1:c.2583G>T | XP_011539431.1:p.Ser861= | |
| XM_017000844.1:c.2775G>T | XP_016856333.1:p.Ser925= | |
| XM_017000845.1:c.2772G>T | XP_016856334.1:p.Ser924= | |
| XM_017000846.1:c.2748G>T | XP_016856335.1:p.Ser916= | |
| XM_017000847.1:c.2745G>T | XP_016856336.1:p.Ser915= | |
| XM_017000848.1:c.2673G>T | XP_016856337.1:p.Ser891= | |
| XM_017000849.1:c.2658G>T | XP_016856338.1:p.Ser886= | |
| XM_017000850.1:c.2583G>T | XP_016856339.1:p.Ser861= | |
| NM_022089.4:c.2790G>T MANE Select | NP_071372.1:p.Ser930= | |
| NM_001141973.3:c.2775G>T | NP_001135445.1:p.Ser925= | |
| NM_001141974.3:c.2658G>T | NP_001135446.1:p.Ser886= |