Linked Data
gnomAD v4:
2-19353148-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.19353148C>A , CM000664.2:g.19353148C>A | GRCh38 |
| NC_000002.11:g.19552909C>A , CM000664.1:g.19552909C>A | GRCh37 |
| NC_000002.10:g.19416390C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272223.3:c.658G>T MANE Select | ENSP00000272223.2:p.Asp220Tyr | |
| ENST00000272223.2:c.658G>T | ENSP00000272223.2:p.Asp220Tyr | |
| ENST00000487581.1:n.3765G>T | ||
| NM_145260.2:c.658G>T | NP_660303.1:p.Asp220Tyr | |
| XM_006711942.2:c.658G>T | XP_006712005.1:p.Asp220Tyr | |
| XM_006711942.4:c.658G>T | XP_006712005.1:p.Asp220Tyr | |
| NM_145260.3:c.658G>T MANE Select | NP_660303.1:p.Asp220Tyr |