Linked Data
dbSNP Id:
rs765935366
ExAC:
20:44576073 A / C
gnomAD v2:
20-44576073-A-C
gnomAD v4:
20-45947434-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45947434A>C , CM000682.2:g.45947434A>C | GRCh38 |
| NC_000020.10:g.44576073A>C , CM000682.1:g.44576073A>C | GRCh37 |
| NC_000020.9:g.44009480A>C | NCBI36 |
| NG_029772.1:g.29761T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372409.8:c.1879A>C MANE Select | ENSP00000361486.3:p.Lys627Gln | |
| ENST00000372409.7:c.1879A>C | ENSP00000361486.3:p.Lys627Gln | |
| ENST00000479348.2:c.735A>C | ||
| NM_022104.3:c.1879A>C | NP_071387.1:p.Lys627Gln | |
| XM_011528980.1:c.1879A>C | XP_011527282.1:p.Lys627Gln | |
| XM_011528981.1:c.1879A>C | XP_011527283.1:p.Lys627Gln | |
| XM_011528982.1:c.835A>C | XP_011527284.1:p.Lys279Gln | |
| XM_011528980.3:c.1879A>C | XP_011527282.1:p.Lys627Gln | |
| XM_011528981.3:c.1879A>C | XP_011527283.1:p.Lys627Gln | |
| XM_017028013.2:c.1879A>C | XP_016883502.1:p.Lys627Gln | |
| XM_017028014.2:c.835A>C | XP_016883503.1:p.Lys279Gln | |
| NM_022104.4:c.1879A>C MANE Select | NP_071387.1:p.Lys627Gln |