Linked Data
dbSNP Id:
rs777537495
ExAC:
19:3595721 G / A
gnomAD v2:
19-3595721-G-A
gnomAD v3:
19-3595723-G-A
gnomAD v4:
19-3595723-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3595723G>A , CM000681.2:g.3595723G>A | GRCh38 |
| NC_000019.9:g.3595721G>A , CM000681.1:g.3595721G>A | GRCh37 |
| NC_000019.8:g.3546721G>A | NCBI36 |
| NG_013363.1:g.16111C>T , LRG_578:g.16111C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375190.10:c.997C>T MANE Select | ENSP00000364336.4:p.Gln333Ter | |
| ENST00000375190.8:c.997C>T | ENSP00000364336.3:p.Gln333Ter | |
| ENST00000411851.3:c.983+14C>T | ENSP00000393333.2:n.983+14C>T | |
| ENST00000589966.1:c.608C>T | ENSP00000468145.1:p.Pro203Leu | |
| NM_001060.5:c.997C>T , LRG_578t1:c.997C>T | NP_001051.1:p.Gln333Ter | |
| NM_201636.2:c.983+14C>T | NP_963998.2:n.983+14C>T | |
| XM_011528214.1:c.997C>T | XP_011526516.1:p.Gln333Ter | |
| XM_011528214.2:c.997C>T | XP_011526516.1:p.Gln333Ter | |
| NM_001060.6:c.997C>T MANE Select | NP_001051.1:p.Gln333Ter | |
| NM_201636.3:c.983+14C>T | NP_963998.2:n.983+14C>T |