COSMIC:
COSN17443188 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.4467166 (AMR)
Genomes Max Group AF
0.4467166 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.53527310A>C , CM000668.2:g.53527310A>C | GRCh38 |
| NC_000006.11:g.53392108A>C , CM000668.1:g.53392108A>C | GRCh37 |
| NC_000006.10:g.53500067A>C | NCBI36 |
| NG_012071.1:g.22724T>G | |
| NG_012071.2:g.22820T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000513939.6:c.151-4783T>G | ENSP00000424211.2:n.151-4783T>G | |
| ENST00000616923.5:c.-9-4783T>G | ENSP00000482756.2:n.-9-4783T>G | |
| ENST00000643939.1:c.139-4783T>G | ENSP00000495686.1:n.139-4783T>G | |
| ENST00000650454.1:c.151-4783T>G MANE Select | ENSP00000497574.1:n.151-4783T>G | |
| ENST00000229416.10:c.151-4783T>G | ENSP00000229416.6:n.151-4783T>G | |
| ENST00000504525.1:c.151-12778T>G | ENSP00000421228.1:n.151-12778T>G | |
| ENST00000505197.1:c.-9-4783T>G | ENSP00000427403.1:n.-9-4783T>G | |
| ENST00000513939.5:c.114-4783T>G | ||
| ENST00000514004.5:c.151-4783T>G | ENSP00000421908.1:n.151-4783T>G | |
| ENST00000616923.4:c.151-4783T>G | ENSP00000482756.1:n.151-4783T>G | |
| NM_001197115.1:c.151-4783T>G | NP_001184044.1:n.151-4783T>G | |
| NM_001498.3:c.151-4783T>G | NP_001489.1:n.151-4783T>G | |
| NM_001498.4:c.151-4783T>G MANE Select | NP_001489.1:n.151-4783T>G | |
| XM_017010749.1:c.-596-4783T>G | XP_016866238.1:n.-596-4783T>G | |
| NM_001197115.2:c.151-4783T>G | NP_001184044.1:n.151-4783T>G |