Linked Data
dbSNP Id:
rs747924769
ExAC:
17:40695958 A / C
gnomAD v2:
17-40695958-A-C
gnomAD v4:
17-42543940-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42543940A>C , CM000679.2:g.42543940A>C | GRCh38 |
| NC_000017.10:g.40695958A>C , CM000679.1:g.40695958A>C | GRCh37 |
| NC_000017.9:g.37949484A>C | NCBI36 |
| NG_011552.1:g.13008A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.1934A>C MANE Select | ENSP00000225927.1:p.Gln645Pro | |
| ENST00000225927.6:c.1934A>C | ENSP00000225927.1:p.Gln645Pro | |
| ENST00000591587.1:c.1272A>C | ENSP00000467836.1:n.1272A>C | |
| NM_000263.3:c.1934A>C | NP_000254.2:p.Gln645Pro | |
| XM_006721920.2:c.1103A>C | XP_006721983.1:p.Gln368Pro | |
| XM_011524840.1:c.935A>C | XP_011523142.1:p.Gln312Pro | |
| XM_017024687.1:c.1103A>C | XP_016880176.1:p.Gln368Pro | |
| XM_024450771.1:c.1991A>C | XP_024306539.1:p.Gln664Pro | |
| XM_024450772.1:c.935A>C | XP_024306540.1:p.Gln312Pro | |
| NM_000263.4:c.1934A>C MANE Select | NP_000254.2:p.Gln645Pro |