Linked Data
dbSNP Id:
rs201659333
ExAC:
17:56584206 C / T
gnomAD v2:
17-56584206-C-T
gnomAD v4:
17-58506845-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58506845C>T , CM000679.2:g.58506845C>T | GRCh38 |
| NC_000017.10:g.56584206C>T , CM000679.1:g.56584206C>T | GRCh37 |
| NC_000017.9:g.53939205C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682306.1:c.931G>A MANE Select | ENSP00000507664.1:p.Val311Met | |
| ENST00000323456.9:c.889G>A | ENSP00000325285.5:p.Val297Met | |
| ENST00000579925.5:c.889G>A | ENSP00000464067.1:p.Val297Met | |
| NM_004687.4:c.889G>A | NP_004678.3:p.Val297Met | |
| XM_005257784.2:c.931G>A | XP_005257841.1:p.Val311Met | |
| XM_005257785.3:c.901G>A | XP_005257842.1:p.Val301Met | |
| XM_005257786.3:c.889G>A | XP_005257843.1:p.Val297Met | |
| XM_006722168.2:c.889G>A | XP_006722231.1:p.Val297Met | |
| XM_011525460.1:c.901G>A | XP_011523762.1:p.Val301Met | |
| XM_005257785.5:c.901G>A | XP_005257842.1:p.Val301Met | |
| XM_005257786.5:c.889G>A | XP_005257843.1:p.Val297Met | |
| XM_006722168.4:c.889G>A | XP_006722231.1:p.Val297Met | |
| XM_011525460.3:c.901G>A | XP_011523762.1:p.Val301Met | |
| NM_004687.5:c.889G>A | NP_004678.3:p.Val297Met | |
| NM_001378066.1:c.901G>A | NP_001364995.1:p.Val301Met | |
| NM_001378067.1:c.931G>A MANE Select | NP_001364996.1:p.Val311Met |