Linked Data
dbSNP Id:
rs1252745977
gnomAD v2:
19-3595772-G-T
gnomAD v3:
19-3595774-G-T
gnomAD v4:
19-3595774-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3595774G>T , CM000681.2:g.3595774G>T | GRCh38 |
| NC_000019.9:g.3595772G>T , CM000681.1:g.3595772G>T | GRCh37 |
| NC_000019.8:g.3546772G>T | NCBI36 |
| NG_013363.1:g.16060C>A , LRG_578:g.16060C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375190.10:c.946C>A MANE Select | ENSP00000364336.4:p.Leu316Ile | |
| ENST00000375190.8:c.946C>A | ENSP00000364336.3:p.Leu316Ile | |
| ENST00000411851.3:c.946C>A | ENSP00000393333.2:p.Leu316Ile | |
| ENST00000589966.1:c.557C>A | ENSP00000468145.1:p.Ala186Asp | |
| NM_001060.5:c.946C>A , LRG_578t1:c.946C>A | NP_001051.1:p.Leu316Ile | |
| NM_201636.2:c.946C>A | NP_963998.2:p.Leu316Ile | |
| XM_011528214.1:c.946C>A | XP_011526516.1:p.Leu316Ile | |
| XM_011528214.2:c.946C>A | XP_011526516.1:p.Leu316Ile | |
| NM_001060.6:c.946C>A MANE Select | NP_001051.1:p.Leu316Ile | |
| NM_201636.3:c.946C>A | NP_963998.2:p.Leu316Ile |