Linked Data
gnomAD v4:
19-48965838-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48965838G>C , CM000681.2:g.48965838G>C | GRCh38 |
| NC_000019.9:g.49469095G>C , CM000681.1:g.49469095G>C | GRCh37 |
| NC_000019.8:g.54160907G>C | NCBI36 |
| NG_008152.1:g.5530G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000331825.11:c.171G>C MANE Select | ENSP00000366525.2:p.Glu57Asp | |
| ENST00000331825.10:c.171G>C | ENSP00000366525.2:p.Glu57Asp | |
| ENST00000622577.2:c.171G>C | ENSP00000484043.1:p.Glu57Asp | |
| NM_000146.3:c.171G>C | NP_000137.2:p.Glu57Asp | |
| XM_024451447.1:c.681G>C | XP_024307215.1:p.Glu227Asp | |
| NM_000146.4:c.171G>C MANE Select | NP_000137.2:p.Glu57Asp |