COSMIC:
COSM4144677 (not active)
COSM4144678 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.94500185 (AFR)
Genomes Max Group AF
0.94130299 (AFR)
Exomes Max Group AF
0.94419782 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43100520A>G , CM000672.2:g.43100520A>G | GRCh38 |
| NC_000010.10:g.43595968A>G , CM000672.1:g.43595968A>G | GRCh37 |
| NC_000010.9:g.42915974A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.135A>G | ENSP00000480088.2:p.Ala45= | |
| ENST00000683278.1:c.37A>G | ||
| ENST00000684216.1:c.37A>G | ||
| ENST00000340058.6:c.135A>G | ENSP00000344798.4:p.Ala45= | |
| ENST00000355710.8:c.135A>G MANE Select | ENSP00000347942.3:p.Ala45= | |
| ENST00000638465.1:c.37A>G | ||
| ENST00000640619.1:c.37A>G | ||
| ENST00000671844.1:c.135A>G | ENSP00000500541.1:p.Ala45= | |
| ENST00000672389.1:c.74-10687A>G | ENSP00000500252.1:n.74-10687A>G | |
| ENST00000340058.5:c.135A>G | ENSP00000344798.4:p.Ala45= | |
| ENST00000355710.7:c.135A>G | ENSP00000347942.3:p.Ala45= | |
| ENST00000498820.5:c.74-11579A>G | ENSP00000419080.1:n.74-11579A>G | |
| ENST00000615310.4:c.135A>G | ENSP00000480088.1:p.Ala45= | |
| XM_011540027.1:c.135A>G | XP_011538329.1:p.Ala45= | |
| NM_020630.5:c.135A>G | NP_065681.1:p.Ala45= | |
| NM_020975.5:c.135A>G | NP_066124.1:p.Ala45= | |
| NM_020975.6:c.135A>G MANE Select | NP_066124.1:p.Ala45= | |
| NM_020630.6:c.135A>G | NP_065681.1:p.Ala45= |