COSMIC:
COSM4000072 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.82361235 (SAS)
Genomes Max Group AF
0.81279504 (SAS)
Exomes Max Group AF
0.82315473 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.27765605A>G , CM000679.2:g.27765605A>G | GRCh38 |
| NC_000017.10:g.26092631A>G , CM000679.1:g.26092631A>G | GRCh37 |
| NC_000017.9:g.23116758A>G | NCBI36 |
| NG_011470.1:g.39925T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697337.1:c.*3092+2T>C | ENSP00000513259.1:n.*3092+2T>C | |
| ENST00000697338.1:c.2206T>C | ENSP00000513260.1:n.2206T>C | |
| ENST00000697339.1:c.1390+2T>C | ENSP00000513261.1:n.1390+2T>C | |
| ENST00000697340.1:c.*1075T>C | ENSP00000513262.1:n.*1075T>C | |
| ENST00000697341.1:n.2328T>C | ||
| ENST00000313735.11:c.2358T>C MANE Select | ENSP00000327251.6:p.Gly786= | |
| ENST00000646938.1:c.2355T>C | ENSP00000494870.1:p.Gly785= | |
| ENST00000313735.10:c.2358T>C | ENSP00000327251.6:p.Gly786= | |
| ENST00000621962.1:c.2241T>C | ENSP00000482291.1:p.Gly747= | |
| NM_000625.4:c.2358T>C MANE Select | NP_000616.3:p.Gly786= | |
| XM_011524859.1:c.2358T>C | XP_011523161.1:p.Gly786= | |
| XM_011524860.1:c.2355T>C | XP_011523162.1:p.Gly785= | |
| XM_011524861.1:c.2356+2T>C | XP_011523163.1:n.2356+2T>C | |
| XM_011524862.1:c.1692T>C | XP_011523164.1:p.Gly564= |