Linked Data
dbSNP Id:
rs1219995195
gnomAD v2:
4-68606298-A-T
gnomAD v3:
4-67740580-A-T
gnomAD v4:
4-67740580-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67740580A>T , CM000666.2:g.67740580A>T | GRCh38 |
| NC_000004.11:g.68606298A>T , CM000666.1:g.68606298A>T | GRCh37 |
| NC_000004.10:g.68288893A>T | NCBI36 |
| NG_009293.1:g.20507T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.887T>A MANE Select | ENSP00000226413.5:p.Met296Lys | |
| ENST00000226413.4:c.887T>A | ENSP00000226413.4:p.Met296Lys | |
| ENST00000420975.2:c.759T>A | ENSP00000397561.2:n.759T>A | |
| NM_000406.2:c.887T>A | NP_000397.1:p.Met296Lys | |
| NM_001012763.1:c.*9T>A | NP_001012781.1:n.*9T>A | |
| NM_000406.3:c.887T>A MANE Select | NP_000397.1:p.Met296Lys | |
| NM_001012763.2:c.*9T>A | NP_001012781.1:n.*9T>A |