Linked Data
dbSNP Id:
rs11155242
ExAC:
6:142691549 A / C
gnomAD v2:
6-142691549-A-C
gnomAD v3:
6-142370412-A-C
gnomAD v4:
6-142370412-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.142370412A>C , CM000668.2:g.142370412A>C | GRCh38 |
| NC_000006.11:g.142691549A>C , CM000668.1:g.142691549A>C | GRCh37 |
| NC_000006.10:g.142733242A>C | NCBI36 |
| NG_011839.1:g.73494A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296932.13:c.688A>C | ENSP00000296932.8:p.Lys230Gln | |
| ENST00000367609.8:c.688A>C MANE Select | ENSP00000356581.3:p.Lys230Gln | |
| ENST00000230173.10:c.688A>C | ENSP00000230173.6:p.Lys230Gln | |
| ENST00000296932.12:c.688A>C | ENSP00000296932.8:p.Lys230Gln | |
| ENST00000367608.6:c.688A>C | ENSP00000356580.2:p.Lys230Gln | |
| ENST00000367609.7:c.688A>C | ENSP00000356581.3:p.Lys230Gln | |
| ENST00000415128.6:n.1068A>C | ||
| ENST00000541199.5:c.685A>C | ENSP00000446287.1:p.Lys229Gln | |
| ENST00000545477.1:n.616+184A>C | ||
| NM_001032394.2:c.688A>C | NP_001027566.1:p.Lys230Gln | |
| NM_001032395.2:c.688A>C | NP_001027567.1:p.Lys230Gln | |
| NM_020455.5:c.688A>C | NP_065188.4:p.Lys230Gln | |
| NM_198569.2:c.688A>C | NP_940971.1:p.Lys230Gln | |
| XM_005267061.2:c.691A>C | XP_005267118.1:p.Lys231Gln | |
| XM_006715516.2:c.691A>C | XP_006715579.1:p.Lys231Gln | |
| XM_006715517.2:c.685A>C | XP_006715580.1:p.Lys229Gln | |
| XM_006715518.2:c.691A>C | XP_006715581.1:p.Lys231Gln | |
| XM_011535964.1:c.688A>C | XP_011534266.1:p.Lys230Gln | |
| XM_005267061.3:c.691A>C | XP_005267118.1:p.Lys231Gln | |
| XM_017011085.1:c.691A>C | XP_016866574.1:p.Lys231Gln | |
| NM_198569.3:c.688A>C MANE Select | NP_940971.2:p.Lys230Gln | |
| NM_001032394.3:c.688A>C | NP_001027566.2:p.Lys230Gln | |
| NM_001032395.3:c.688A>C | NP_001027567.2:p.Lys230Gln | |
| NM_020455.6:c.688A>C | NP_065188.5:p.Lys230Gln |