Linked Data
dbSNP Id:
rs754862666
ExAC:
9:841879 C / T
gnomAD v2:
9-841879-C-T
gnomAD v3:
9-841879-C-T
gnomAD v4:
9-841879-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.841879C>T , CM000671.2:g.841879C>T | GRCh38 |
| NC_000009.11:g.841879C>T , CM000671.1:g.841879C>T | GRCh37 |
| NC_000009.10:g.831879C>T | NCBI36 |
| NG_009221.1:g.5190C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382276.8:c.41C>T MANE Select | ENSP00000371711.3:p.Ser14Leu | |
| ENST00000382276.7:c.41C>T | ENSP00000371711.3:p.Ser14Leu | |
| ENST00000564322.1:n.190C>T | ||
| NM_021951.2:c.41C>T | NP_068770.2:p.Ser14Leu | |
| XM_006716732.1:c.41C>T | XP_006716795.1:p.Ser14Leu | |
| XM_017014375.1:c.41C>T | XP_016869864.1:p.Ser14Leu | |
| NM_021951.3:c.41C>T MANE Select | NP_068770.2:p.Ser14Leu |