Linked Data
dbSNP Id:
rs763028919
ExAC:
9:133364816 G / T
gnomAD v2:
9-133364816-G-T
gnomAD v4:
9-130489429-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130489429G>T , CM000671.2:g.130489429G>T | GRCh38 |
| NC_000009.11:g.133364816G>T , CM000671.1:g.133364816G>T | GRCh37 |
| NC_000009.10:g.132354637G>T | NCBI36 |
| NG_011542.1:g.49723G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.935G>T MANE Select | ENSP00000253004.6:p.Gly312Val | |
| ENST00000352480.9:c.935G>T | ENSP00000253004.6:p.Gly312Val | |
| ENST00000372386.6:n.206G>T | ||
| ENST00000372393.7:c.935G>T | ENSP00000361469.2:p.Gly312Val | |
| ENST00000372394.5:c.935G>T | ENSP00000361471.1:p.Gly312Val | |
| ENST00000492400.5:n.444G>T | ||
| NM_000050.4:c.935G>T | NP_000041.2:p.Gly312Val | |
| NM_054012.3:c.935G>T | NP_446464.1:p.Gly312Val | |
| XM_005272200.2:c.935G>T | XP_005272257.1:p.Gly312Val | |
| XM_011518705.1:c.1049G>T | XP_011517007.1:p.Gly350Val | |
| XM_005272200.3:c.935G>T | XP_005272257.1:p.Gly312Val | |
| XM_011518705.2:c.1049G>T | XP_011517007.1:p.Gly350Val | |
| XM_017014729.1:c.1031G>T | XP_016870218.1:p.Gly344Val | |
| NM_054012.4:c.935G>T MANE Select | NP_446464.1:p.Gly312Val |