COSMIC:
COSM3761554 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.48479835 (AFR)
Genomes Max Group AF
0.4831816 (AFR)
Exomes Max Group AF
0.48294083 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151807942T>C , CM000668.2:g.151807942T>C | GRCh38 |
| NC_000006.11:g.152129077T>C , CM000668.1:g.152129077T>C | GRCh37 |
| NC_000006.10:g.152170770T>C | NCBI36 |
| NG_008493.1:g.122447T>C | |
| NG_008493.2:g.156252T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206249.8:c.30T>C MANE Select | ENSP00000206249.3:p.Ser10= | |
| ENST00000206249.7:c.30T>C | ENSP00000206249.3:p.Ser10= | |
| ENST00000338799.9:c.30T>C | ENSP00000342630.5:p.Ser10= | |
| ENST00000404742.5:c.30T>C | ENSP00000385373.1:p.Ser10= | |
| ENST00000406599.5:c.30T>C | ENSP00000384064.1:p.Ser10= | |
| ENST00000440973.5:c.30T>C | ENSP00000405330.1:p.Ser10= | |
| ENST00000443427.5:c.30T>C | ENSP00000387500.1:p.Ser10= | |
| ENST00000446550.1:c.30T>C | ENSP00000411105.1:p.Ser10= | |
| ENST00000456483.3:c.30T>C | ENSP00000415934.3:p.Ser10= | |
| NM_000125.3:c.30T>C | NP_000116.2:p.Ser10= | |
| NM_001122740.1:c.30T>C | NP_001116212.1:p.Ser10= | |
| NM_001122741.1:c.30T>C | NP_001116213.1:p.Ser10= | |
| NM_001122742.1:c.30T>C | NP_001116214.1:p.Ser10= | |
| NM_001291230.1:c.30T>C | NP_001278159.1:p.Ser10= | |
| NM_001291241.1:c.30T>C | NP_001278170.1:p.Ser10= | |
| XM_006715374.2:c.30T>C | XP_006715437.1:p.Ser10= | |
| XM_011535543.1:c.30T>C | XP_011533845.1:p.Ser10= | |
| XM_011535544.1:c.30T>C | XP_011533846.1:p.Ser10= | |
| XM_011535545.1:c.30T>C | XP_011533847.1:p.Ser10= | |
| XM_011535546.1:c.30T>C | XP_011533848.1:p.Ser10= | |
| XM_011535547.1:c.30T>C | XP_011533849.1:p.Ser10= | |
| XM_006715374.3:c.30T>C | XP_006715437.1:p.Ser10= | |
| XM_011535543.2:c.30T>C | XP_011533845.1:p.Ser10= | |
| XM_011535544.2:c.30T>C | XP_011533846.1:p.Ser10= | |
| XM_011535545.2:c.30T>C | XP_011533847.1:p.Ser10= | |
| XM_011535547.2:c.30T>C | XP_011533849.1:p.Ser10= | |
| XM_017010376.1:c.30T>C | XP_016865865.1:p.Ser10= | |
| XM_017010377.1:c.30T>C | XP_016865866.1:p.Ser10= | |
| XM_017010378.1:c.30T>C | XP_016865867.1:p.Ser10= | |
| XM_017010379.1:c.30T>C | XP_016865868.1:p.Ser10= | |
| XM_017010380.1:c.30T>C | XP_016865869.1:p.Ser10= | |
| XM_017010381.1:c.30T>C | XP_016865870.1:p.Ser10= | |
| XR_001743223.2:n.400T>C | ||
| XR_002956266.1:n.400T>C | ||
| NM_000125.4:c.30T>C MANE Select | NP_000116.2:p.Ser10= | |
| NM_001122740.2:c.30T>C | NP_001116212.1:p.Ser10= | |
| NM_001122741.2:c.30T>C | NP_001116213.1:p.Ser10= | |
| NM_001122742.2:c.30T>C | NP_001116214.1:p.Ser10= | |
| NM_001291230.2:c.30T>C | NP_001278159.1:p.Ser10= | |
| NM_001291241.2:c.30T>C | NP_001278170.1:p.Ser10= | |
| NM_001385568.1:c.30T>C | NP_001372497.1:p.Ser10= | |
| NM_001385569.1:c.30T>C | NP_001372498.1:p.Ser10= | |
| NM_001385570.1:c.30T>C | NP_001372499.1:p.Ser10= | |
| NM_001385571.1:c.30T>C | NP_001372500.1:p.Ser10= | |
| NM_001385572.1:c.30T>C | NP_001372501.1:p.Ser10= |