Linked Data
ClinVar Variation Id:
393390
dbSNP Id:
rs1057524890
gnomAD v2:
4-6303418-G-T
gnomAD v3:
4-6301691-G-T
gnomAD v4:
4-6301691-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301691G>T , CM000666.2:g.6301691G>T | GRCh38 |
| NC_000004.11:g.6303418G>T , CM000666.1:g.6303418G>T | GRCh37 |
| NC_000004.10:g.6354319G>T | NCBI36 |
| NG_011700.1:g.36842G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1932G>T | ENSP00000507852.1:p.Met644Ile | |
| ENST00000683395.1:c.1873G>T | ||
| ENST00000684087.1:c.1896G>T | ENSP00000506978.1:p.Met632Ile | |
| ENST00000506362.2:c.1647G>T | ENSP00000424103.2:p.Met549Ile | |
| ENST00000673642.1:c.1555G>T | ENSP00000501242.1:n.1555G>T | |
| ENST00000673991.1:c.1932G>T | ENSP00000501033.1:p.Met644Ile | |
| ENST00000226760.5:c.1896G>T MANE Select | ENSP00000226760.1:p.Met632Ile | |
| ENST00000503569.5:c.1896G>T | ENSP00000423337.1:p.Met632Ile | |
| ENST00000507765.1:n.2081G>T | ||
| NM_001145853.1:c.1896G>T | NP_001139325.1:p.Met632Ile | |
| NM_006005.3:c.1896G>T MANE Select | NP_005996.2:p.Met632Ile | |
| XM_017008586.1:c.1905G>T | XP_016864075.1:p.Met635Ile |