COSMIC:
COSM3752140 (not active)
COSM3752141 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.32462023 (AMR)
Genomes Max Group AF
0.31318261 (AMR)
Exomes Max Group AF
0.326805 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112150193T>G , CM000673.2:g.112150193T>G | GRCh38 |
| NC_000011.9:g.112020916T>G , CM000673.1:g.112020916T>G | GRCh37 |
| NC_000011.8:g.111526126T>G | NCBI36 |
| NG_028143.1:g.18925A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280357.12:c.105A>C MANE Select | ENSP00000280357.7:p.Ser35= | |
| ENST00000280357.11:c.105A>C | ENSP00000280357.7:p.Ser35= | |
| ENST00000524595.5:c.93A>C | ENSP00000434561.1:p.Ser31= | |
| ENST00000525547.5:n.881A>C | ||
| ENST00000525987.5:n.320-20226T>G | ||
| ENST00000528832.1:c.105A>C | ENSP00000434161.1:p.Ser35= | |
| ENST00000531744.5:c.315-20226T>G | ENSP00000456957.1:n.315-20226T>G | |
| ENST00000532699.1:c.315-20226T>G | ENSP00000456434.1:n.315-20226T>G | |
| ENST00000533858.5:n.368A>C | ||
| NM_001243211.1:c.93A>C | NP_001230140.1:p.Ser31= | |
| NM_001562.3:c.105A>C | NP_001553.1:p.Ser35= | |
| XM_011542805.1:c.93A>C | XP_011541107.1:p.Ser31= | |
| XM_011542806.1:c.105A>C | XP_011541108.1:p.Ser35= | |
| XM_011542806.2:c.105A>C | XP_011541108.1:p.Ser35= | |
| NM_001562.4:c.105A>C MANE Select | NP_001553.1:p.Ser35= | |
| NM_001243211.2:c.93A>C | NP_001230140.1:p.Ser31= | |
| NM_001386420.1:c.105A>C | NP_001373349.1:p.Ser35= |