Linked Data
dbSNP Id:
rs202203460
ExAC:
19:3595570 G / T
gnomAD v2:
19-3595570-G-T
gnomAD v3:
19-3595572-G-T
gnomAD v4:
19-3595572-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3595572G>T , CM000681.2:g.3595572G>T | GRCh38 |
| NC_000019.9:g.3595570G>T , CM000681.1:g.3595570G>T | GRCh37 |
| NC_000019.8:g.3546570G>T | NCBI36 |
| NG_013363.1:g.16262C>A , LRG_578:g.16262C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375190.10:c.*116C>A MANE Select | ENSP00000364336.4:n.*116C>A | |
| ENST00000375190.8:c.*116C>A | ENSP00000364336.3:n.*116C>A | |
| ENST00000411851.3:c.983+165C>A | ENSP00000393333.2:n.983+165C>A | |
| ENST00000589966.1:c.759C>A | ENSP00000468145.1:p.Ile253= | |
| NM_001060.5:c.*116C>A , LRG_578t1:c.*116C>A | NP_001051.1:n.*116C>A | |
| NM_201636.2:c.983+165C>A | NP_963998.2:n.983+165C>A | |
| NM_001060.6:c.*116C>A MANE Select | NP_001051.1:n.*116C>A | |
| NM_201636.3:c.983+165C>A | NP_963998.2:n.983+165C>A |