COSMIC:
COSM4415037 (not active)
COSM4415038 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.54348838 (NFE)
Genomes Max Group AF
0.55086178 (NFE)
Exomes Max Group AF
0.54277405 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.53410624T>C , CM000680.2:g.53410624T>C | GRCh38 |
| NC_000018.9:g.50936994T>C , CM000680.1:g.50936994T>C | GRCh37 |
| NC_000018.8:g.49190992T>C | NCBI36 |
| NG_013341.1:g.1075453T>C | |
| NG_013341.2:g.1075453T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442544.7:c.3108T>C MANE Select | ENSP00000389140.2:p.Pro1036= | |
| ENST00000304775.12:c.2676T>C | ||
| ENST00000412726.5:c.3039T>C | ENSP00000397322.2:p.Pro1013= | |
| ENST00000442544.6:c.3108T>C | ENSP00000389140.2:p.Pro1036= | |
| ENST00000579941.1:c.524T>C | ||
| ENST00000581580.5:c.2013T>C | ENSP00000464582.1:p.Pro671= | |
| NM_005215.3:c.3108T>C | NP_005206.2:p.Pro1036= | |
| XM_011525843.1:c.3108T>C | XP_011524145.1:p.Pro1036= | |
| XM_011525844.1:c.2073T>C | XP_011524146.1:p.Pro691= | |
| XM_011525845.1:c.3108T>C | XP_011524147.1:p.Pro1036= | |
| XM_011525846.1:c.3048T>C | XP_011524148.1:p.Pro1016= | |
| XM_011525844.2:c.2073T>C | XP_011524146.1:p.Pro691= | |
| XM_017025568.1:c.3108T>C | XP_016881057.1:p.Pro1036= | |
| XM_017025569.1:c.3048T>C | XP_016881058.1:p.Pro1016= | |
| XM_017025570.1:c.2073T>C | XP_016881059.1:p.Pro691= | |
| NM_005215.4:c.3108T>C MANE Select | NP_005206.2:p.Pro1036= |