Linked Data
ClinVar Variation Id:
209166
dbSNP Id:
rs148934699
ExAC:
17:4925475 C / T
gnomAD v2:
17-4925475-C-T
gnomAD v3:
17-5022180-C-T
gnomAD v4:
17-5022180-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.5022180C>T , CM000679.2:g.5022180C>T | GRCh38 |
| NC_000017.10:g.4925475C>T , CM000679.1:g.4925475C>T | GRCh37 |
| NC_000017.9:g.4866199C>T | NCBI36 |
| NG_034137.1:g.29233C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320785.10:c.2099C>T MANE Select | ENSP00000320821.5:p.Pro700Leu | |
| ENST00000320785.9:c.2099C>T | ENSP00000320821.5:p.Pro700Leu | |
| ENST00000573815.1:n.641C>T | ||
| NM_006612.5:c.2099C>T | NP_006603.2:p.Pro700Leu | |
| XM_005256424.1:c.2099C>T | XP_005256481.1:p.Pro700Leu | |
| XM_005256424.2:c.2099C>T | XP_005256481.1:p.Pro700Leu | |
| NM_006612.6:c.2099C>T MANE Select | NP_006603.2:p.Pro700Leu |