Linked Data
dbSNP Id:
rs567807132
ExAC:
9:133355774 G / T
gnomAD v2:
9-133355774-G-T
gnomAD v3:
9-130480387-G-T
gnomAD v4:
9-130480387-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130480387G>T , CM000671.2:g.130480387G>T | GRCh38 |
| NC_000009.11:g.133355774G>T , CM000671.1:g.133355774G>T | GRCh37 |
| NC_000009.10:g.132345595G>T | NCBI36 |
| NG_011542.1:g.40681G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.776G>T MANE Select | ENSP00000253004.6:p.Gly259Val | |
| ENST00000352480.9:c.776G>T | ENSP00000253004.6:p.Gly259Val | |
| ENST00000372386.6:n.47G>T | ||
| ENST00000372393.7:c.776G>T | ENSP00000361469.2:p.Gly259Val | |
| ENST00000372394.5:c.776G>T | ENSP00000361471.1:p.Gly259Val | |
| ENST00000470849.4:n.501G>T | ||
| ENST00000492400.5:n.285G>T | ||
| ENST00000493984.6:n.553G>T | ||
| NM_000050.4:c.776G>T | NP_000041.2:p.Gly259Val | |
| NM_054012.3:c.776G>T | NP_446464.1:p.Gly259Val | |
| XM_005272200.2:c.776G>T | XP_005272257.1:p.Gly259Val | |
| XM_011518705.1:c.890G>T | XP_011517007.1:p.Gly297Val | |
| XM_005272200.3:c.776G>T | XP_005272257.1:p.Gly259Val | |
| XM_011518705.2:c.890G>T | XP_011517007.1:p.Gly297Val | |
| XM_017014729.1:c.872G>T | XP_016870218.1:p.Gly291Val | |
| NM_054012.4:c.776G>T MANE Select | NP_446464.1:p.Gly259Val |