Linked Data
gnomAD v4:
17-74919603-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74919603C>G , CM000679.2:g.74919603C>G | GRCh38 |
| NC_000017.10:g.72915698C>G , CM000679.1:g.72915698C>G | GRCh37 |
| NC_000017.9:g.70427293C>G | NCBI36 |
| NG_007882.1:g.8654G>C | |
| NG_033062.1:g.329C>G | |
| NG_007882.2:g.8661G>C | |
| NG_033062.2:g.329C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614341.5:c.1233G>C MANE Select | ENSP00000480279.1:p.Glu411Asp | |
| ENST00000579243.1:c.*832G>C | ENSP00000462568.1:n.*832G>C | |
| ENST00000614341.4:c.1233G>C | ENSP00000480279.1:p.Glu411Asp | |
| NM_001282489.2:c.924G>C | NP_001269418.1:p.Glu308Asp | |
| NM_173477.4:c.1233G>C | NP_775748.2:p.Glu411Asp | |
| XM_011524296.1:c.924G>C | XP_011522598.1:p.Glu308Asp | |
| XM_011524296.2:c.924G>C | XP_011522598.1:p.Glu308Asp | |
| NM_173477.5:c.1233G>C MANE Select | NP_775748.2:p.Glu411Asp | |
| NM_001282489.3:c.924G>C | NP_001269418.1:p.Glu308Asp |