Linked Data
dbSNP Id:
rs759118026
ExAC:
19:45412405 G / T
gnomAD v2:
19-45412405-G-T
gnomAD v4:
19-44909148-G-T
MyVariant Identifiers:
chr19:g.45412405G>T (hg19)
chr19:g.45412405_45412406delinsTC (hg19)
chr19:g.44909148G>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44909148G>T , CM000681.2:g.44909148G>T | GRCh38 |
| NC_000019.9:g.45412405G>T , CM000681.1:g.45412405G>T | GRCh37 |
| NC_000019.8:g.50104245G>T | NCBI36 |
| NG_007084.2:g.8367G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252486.9:c.852G>T MANE Select | ENSP00000252486.3:p.Glu284Asp | |
| ENST00000252486.8:c.852G>T | ENSP00000252486.3:p.Glu284Asp | |
| NM_000041.3:c.852G>T | NP_000032.1:p.Glu284Asp | |
| NM_001302688.1:c.930G>T | NP_001289617.1:p.Glu310Asp | |
| NM_001302689.1:c.852G>T | NP_001289618.1:p.Glu284Asp | |
| NM_001302690.1:c.852G>T | NP_001289619.1:p.Glu284Asp | |
| NM_001302691.1:c.852G>T | NP_001289620.1:p.Glu284Asp | |
| NM_000041.4:c.852G>T MANE Select | NP_000032.1:p.Glu284Asp | |
| NM_001302688.2:c.930G>T | NP_001289617.1:p.Glu310Asp | |
| NM_001302689.2:c.852G>T | NP_001289618.1:p.Glu284Asp | |
| NM_001302691.2:c.852G>T | NP_001289620.1:p.Glu284Asp | |
| NM_001302690.2:c.852G>T | NP_001289619.1:p.Glu284Asp |