Linked Data
ClinVar Variation Id:
458674
dbSNP Id:
rs121908638
gnomAD v2:
9-133346264-G-T
gnomAD v3:
9-130470877-G-T
gnomAD v4:
9-130470877-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130470877G>T , CM000671.2:g.130470877G>T | GRCh38 |
| NC_000009.11:g.133346264G>T , CM000671.1:g.133346264G>T | GRCh37 |
| NC_000009.10:g.132336085G>T | NCBI36 |
| NG_011542.1:g.31171G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.539G>T MANE Select | ENSP00000253004.6:p.Ser180Ile | |
| ENST00000352480.9:c.539G>T | ENSP00000253004.6:p.Ser180Ile | |
| ENST00000372393.7:c.539G>T | ENSP00000361469.2:p.Ser180Ile | |
| ENST00000372394.5:c.539G>T | ENSP00000361471.1:p.Ser180Ile | |
| ENST00000422569.5:c.539G>T | ENSP00000394212.1:p.Ser180Ile | |
| ENST00000443588.1:c.482G>T | ENSP00000397785.1:p.Ser161Ile | |
| ENST00000467695.5:n.248G>T | ||
| ENST00000493984.6:n.370G>T | ||
| NM_000050.4:c.539G>T | NP_000041.2:p.Ser180Ile | |
| NM_054012.3:c.539G>T | NP_446464.1:p.Ser180Ile | |
| XM_005272200.2:c.539G>T | XP_005272257.1:p.Ser180Ile | |
| XM_011518705.1:c.653G>T | XP_011517007.1:p.Ser218Ile | |
| XM_005272200.3:c.539G>T | XP_005272257.1:p.Ser180Ile | |
| XM_011518705.2:c.653G>T | XP_011517007.1:p.Ser218Ile | |
| XM_017014729.1:c.635G>T | XP_016870218.1:p.Ser212Ile | |
| NM_054012.4:c.539G>T MANE Select | NP_446464.1:p.Ser180Ile |