COSMIC:
COSN24355581 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.12791109 (NFE)
Genomes Max Group AF
0.12861068 (NFE)
Exomes Max Group AF
0.12730825 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99610253T>C , CM000669.2:g.99610253T>C | GRCh38 |
| NC_000007.13:g.99207876T>C , CM000669.1:g.99207876T>C | GRCh37 |
| NC_000007.12:g.99045812T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431679.6:c.494-140T>C MANE Select | ENSP00000492416.1:n.494-140T>C | |
| ENST00000453227.5:n.672-140T>C | ||
| NM_001195541.1:c.494-140T>C | NP_001182470.1:n.494-140T>C | |
| NM_001195542.1:c.494-140T>C | NP_001182471.1:n.494-140T>C | |
| NM_001195543.1:c.494-140T>C | NP_001182472.1:n.494-140T>C | |
| XM_005250088.3:c.494-140T>C | XP_005250145.1:n.494-140T>C | |
| XM_011515691.1:c.539-140T>C | XP_011513993.1:n.539-140T>C | |
| XM_011515692.1:c.539-140T>C | XP_011513994.1:n.539-140T>C | |
| XM_011515693.1:c.539-140T>C | XP_011513995.1:n.539-140T>C | |
| XM_011515694.1:c.539-140T>C | XP_011513996.1:n.539-140T>C | |
| XM_011515695.1:c.539-140T>C | XP_011513997.1:n.539-140T>C | |
| XM_011515696.1:c.539-140T>C | XP_011513998.1:n.539-140T>C | |
| XM_011515697.1:c.539-140T>C | XP_011513999.1:n.539-140T>C | |
| XM_011515698.1:c.347-140T>C | XP_011514000.1:n.347-140T>C | |
| XM_011515699.1:c.494-140T>C | XP_011514001.1:n.494-140T>C | |
| XM_011515700.1:c.494-140T>C | XP_011514002.1:n.494-140T>C | |
| NM_001195541.2:c.494-140T>C | NP_001182470.1:n.494-140T>C | |
| NM_001195542.2:c.494-140T>C | NP_001182471.1:n.494-140T>C | |
| NM_001195543.2:c.494-140T>C | NP_001182472.1:n.494-140T>C | |
| XM_005250088.5:c.494-140T>C | XP_005250145.1:n.494-140T>C | |
| XM_011515691.2:c.539-140T>C | XP_011513993.1:n.539-140T>C | |
| XM_011515692.2:c.539-140T>C | XP_011513994.1:n.539-140T>C | |
| XM_011515694.2:c.539-140T>C | XP_011513996.1:n.539-140T>C | |
| XM_011515695.2:c.539-140T>C | XP_011513997.1:n.539-140T>C | |
| XM_011515696.2:c.539-140T>C | XP_011513998.1:n.539-140T>C | |
| XM_011515699.2:c.494-140T>C | XP_011514001.1:n.494-140T>C | |
| XM_011515700.3:c.494-140T>C | XP_011514002.1:n.494-140T>C | |
| XM_017011629.2:c.539-140T>C | XP_016867118.1:n.539-140T>C | |
| XM_024446621.1:c.632-140T>C | XP_024302389.1:n.632-140T>C | |
| XM_024446622.1:c.539-140T>C | XP_024302390.1:n.539-140T>C | |
| XM_024446623.1:c.494-140T>C | XP_024302391.1:n.494-140T>C | |
| XM_024446624.1:c.494-140T>C | XP_024302392.1:n.494-140T>C | |
| XM_024446625.1:c.494-140T>C | XP_024302393.1:n.494-140T>C | |
| NM_001195541.3:c.494-140T>C MANE Select | NP_001182470.1:n.494-140T>C | |
| NM_001195542.3:c.494-140T>C | NP_001182471.1:n.494-140T>C | |
| NM_001195543.3:c.494-140T>C | NP_001182472.1:n.494-140T>C |