COSMIC:
COSN17455133 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.49932054 (AMR)
Genomes Max Group AF
0.49932054 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.41276829C>G , CM000668.2:g.41276829C>G | GRCh38 |
| NC_000006.11:g.41244567C>G , CM000668.1:g.41244567C>G | GRCh37 |
| NC_000006.10:g.41352545C>G | NCBI36 |
| NG_029525.1:g.14891G>C | |
| NG_029525.2:g.14891G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244709.9:c.600-599G>C MANE Select | ENSP00000244709.3:n.600-599G>C | |
| ENST00000244709.8:c.600-599G>C | ENSP00000244709.3:n.600-599G>C | |
| ENST00000334475.10:c.407-599G>C | ENSP00000334284.5:n.407-599G>C | |
| ENST00000589614.5:c.599+4132G>C | ENSP00000465688.1:n.599+4132G>C | |
| ENST00000589695.1:n.275-599G>C | ||
| NM_001242590.1:c.407-599G>C | NP_001229519.1:n.407-599G>C | |
| NM_018643.3:c.600-599G>C | NP_061113.1:n.600-599G>C | |
| XM_006715117.2:c.406+5566G>C | XP_006715180.1:n.406+5566G>C | |
| XM_011514696.1:c.599+4132G>C | XP_011512998.1:n.599+4132G>C | |
| NM_001242590.2:c.407-599G>C | NP_001229519.1:n.407-599G>C | |
| NM_018643.4:c.600-599G>C | NP_061113.1:n.600-599G>C | |
| NR_136332.1:n.690-599G>C | ||
| XM_006715117.3:c.406+5566G>C | XP_006715180.1:n.406+5566G>C | |
| XM_011514696.2:c.599+4132G>C | XP_011512998.1:n.599+4132G>C | |
| XM_017010956.2:c.600-599G>C | XP_016866445.1:n.600-599G>C | |
| XM_017010957.1:c.407-599G>C | XP_016866446.1:n.407-599G>C | |
| NM_018643.5:c.600-599G>C MANE Select | NP_061113.1:n.600-599G>C | |
| NM_001242590.3:c.407-599G>C | NP_001229519.1:n.407-599G>C | |
| NR_136332.2:n.627-599G>C |