Linked Data
dbSNP Id:
rs772955090
ExAC:
8:99170242 C / A
gnomAD v2:
8-99170242-C-A
gnomAD v4:
8-98158014-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.98158014C>A , CM000670.2:g.98158014C>A | GRCh38 |
| NC_000008.10:g.99170242C>A , CM000670.1:g.99170242C>A | GRCh37 |
| NC_000008.9:g.99239418C>A | NCBI36 |
| NG_052869.1:g.45722C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401707.7:c.2818C>A MANE Select | ENSP00000385787.2:p.Gln940Lys | |
| ENST00000349693.3:c.2818C>A | ENSP00000339529.3:p.Gln940Lys | |
| ENST00000401707.6:c.2818C>A | ENSP00000385787.2:p.Gln940Lys | |
| NM_001145860.1:c.2818C>A | NP_001139332.1:p.Gln940Lys | |
| NM_001145861.1:c.2818C>A | NP_001139333.1:p.Gln940Lys | |
| NM_015029.2:c.2818C>A | NP_055844.2:p.Gln940Lys | |
| NM_001145860.2:c.2818C>A MANE Select | NP_001139332.1:p.Gln940Lys | |
| NM_001145861.2:c.2818C>A | NP_001139333.1:p.Gln940Lys | |
| NM_015029.3:c.2818C>A | NP_055844.2:p.Gln940Lys |