Linked Data
gnomAD v4:
10-114044279-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114044279C>A , CM000672.2:g.114044279C>A | GRCh38 |
| NC_000010.10:g.115804038C>A , CM000672.1:g.115804038C>A | GRCh37 |
| NC_000010.9:g.115794028C>A | NCBI36 |
| NG_012187.1:g.5233C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369295.4:c.147C>A MANE Select | ENSP00000358301.2:p.Ser49Arg | |
| ENST00000369295.3:c.147C>A | ENSP00000358301.2:p.Ser49Arg | |
| NM_000684.2:c.147C>A | NP_000675.1:p.Ser49Arg | |
| NM_000684.3:c.147C>A MANE Select | NP_000675.1:p.Ser49Arg |