Linked Data
dbSNP Id:
rs780533440
ExAC:
19:15290964 C / T
gnomAD v2:
19-15290964-C-T
gnomAD v3:
19-15180153-C-T
gnomAD v4:
19-15180153-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15180153C>T , CM000681.2:g.15180153C>T | GRCh38 |
| NC_000019.9:g.15290964C>T , CM000681.1:g.15290964C>T | GRCh37 |
| NC_000019.8:g.15151964C>T | NCBI36 |
| NG_009819.1:g.25829G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.3246G>A MANE Select | ENSP00000263388.1:p.Glu1082= | |
| ENST00000263388.6:c.3246G>A | ENSP00000263388.1:p.Glu1082= | |
| ENST00000601011.1:c.3087G>A | ENSP00000473138.1:p.Glu1029= | |
| NM_000435.2:c.3246G>A | NP_000426.2:p.Glu1082= | |
| XM_005259924.3:c.3090G>A | XP_005259981.1:p.Glu1030= | |
| XM_005259924.4:c.3090G>A | XP_005259981.1:p.Glu1030= | |
| NM_000435.3:c.3246G>A MANE Select | NP_000426.2:p.Glu1082= |