Linked Data
ClinVar Variation Id:
512221
ClinVar RCV Id:
RCV001697953
dbSNP Id:
rs182873139
ExAC:
5:70759923 C / T
gnomAD v2:
5-70759923-C-T
gnomAD v3:
5-71464096-C-T
gnomAD v4:
5-71464096-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71464096C>T , CM000667.2:g.71464096C>T | GRCh38 |
| NC_000005.9:g.70759923C>T , CM000667.1:g.70759923C>T | GRCh37 |
| NC_000005.8:g.70795679C>T | NCBI36 |
| NG_047017.1:g.13714C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358731.9:c.638C>T MANE Select | ENSP00000351575.4:p.Ser213Leu | |
| ENST00000358731.8:c.638C>T | ENSP00000351575.4:p.Ser213Leu | |
| ENST00000380675.3:c.638C>T | ENSP00000370050.3:p.Ser213Leu | |
| ENST00000508917.6:n.830C>T | ||
| NM_018429.2:c.638C>T | NP_060899.2:p.Ser213Leu | |
| XM_006714658.2:c.638C>T | XP_006714721.1:p.Ser213Leu | |
| XM_006714659.2:c.638C>T | XP_006714722.1:p.Ser213Leu | |
| XM_011543511.1:c.638C>T | XP_011541813.1:p.Ser213Leu | |
| XM_011543512.1:c.638C>T | XP_011541814.1:p.Ser213Leu | |
| XM_011543513.1:c.638C>T | XP_011541815.1:p.Ser213Leu | |
| XR_241785.3:n.1132C>T | ||
| XR_948275.1:n.1133C>T | ||
| XR_948276.1:n.1133C>T | ||
| XR_948277.1:n.1133C>T | ||
| XR_948278.1:n.1133C>T | ||
| XR_948279.1:n.1133C>T | ||
| XR_948280.1:n.1133C>T | ||
| XM_011543511.3:c.638C>T | XP_011541813.1:p.Ser213Leu | |
| XM_011543512.2:c.638C>T | XP_011541814.1:p.Ser213Leu | |
| XM_017009630.1:c.638C>T | XP_016865119.1:p.Ser213Leu | |
| XM_017009631.1:c.638C>T | XP_016865120.1:p.Ser213Leu | |
| XM_017009632.1:c.638C>T | XP_016865121.1:p.Ser213Leu | |
| XM_017009633.1:c.638C>T | XP_016865122.1:p.Ser213Leu | |
| XM_017009634.1:c.638C>T | XP_016865123.1:p.Ser213Leu | |
| NM_018429.3:c.638C>T MANE Select | NP_060899.2:p.Ser213Leu |