Linked Data
dbSNP Id:
rs150689919
ExAC:
10:70333555 C / T
gnomAD v2:
10-70333555-C-T
gnomAD v3:
10-68573798-C-T
gnomAD v4:
10-68573798-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68573798C>T , CM000672.2:g.68573798C>T | GRCh38 |
| NC_000010.10:g.70333555C>T , CM000672.1:g.70333555C>T | GRCh37 |
| NC_000010.9:g.70003561C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373644.5:c.1460C>T MANE Select | ENSP00000362748.4:p.Ser487Leu | |
| ENST00000373644.4:c.1460C>T | ENSP00000362748.4:p.Ser487Leu | |
| NM_030625.2:c.1460C>T | NP_085128.2:p.Ser487Leu | |
| XM_011540204.1:c.1460C>T | XP_011538506.1:p.Ser487Leu | |
| XM_011540206.1:c.1460C>T | XP_011538508.1:p.Ser487Leu | |
| XM_011540204.2:c.1460C>T | XP_011538506.1:p.Ser487Leu | |
| XM_011540206.2:c.1460C>T | XP_011538508.1:p.Ser487Leu | |
| XR_001747210.1:n.1965C>T | ||
| XR_001747211.1:n.1965C>T | ||
| XR_001747212.1:n.1965C>T | ||
| NM_030625.3:c.1460C>T MANE Select | NP_085128.2:p.Ser487Leu |