Linked Data
dbSNP Id:
rs573886701
ExAC:
19:7593879 G / T
gnomAD v2:
19-7593879-G-T
gnomAD v3:
19-7528993-G-T
gnomAD v4:
19-7528993-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7528993G>T , CM000681.2:g.7528993G>T | GRCh38 |
| NC_000019.9:g.7593879G>T , CM000681.1:g.7593879G>T | GRCh37 |
| NC_000019.8:g.7499879G>T | NCBI36 |
| NG_015806.1:g.11384G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1134+23G>T MANE Select | ENSP00000264079.5:n.1134+23G>T | |
| ENST00000264079.10:c.1134+23G>T | ENSP00000264079.5:n.1134+23G>T | |
| ENST00000394321.9:n.1449+23G>T | ||
| ENST00000594692.1:n.23G>T | ||
| ENST00000595860.5:n.317+23G>T | ||
| ENST00000599334.1:c.11+23G>T | ||
| NM_020533.2:c.1134+23G>T | NP_065394.1:n.1134+23G>T | |
| NM_020533.3:c.1134+23G>T MANE Select | NP_065394.1:n.1134+23G>T |