Linked Data
ClinVar Variation Id:
411912
dbSNP Id:
rs771333219
ExAC:
7:116399498 C / T
gnomAD v2:
7-116399498-C-T
gnomAD v3:
7-116759444-C-T
gnomAD v4:
7-116759444-C-T
PubMed:
PMID:12920089
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.116759444C>T , CM000669.2:g.116759444C>T | GRCh38 |
| NC_000007.13:g.116399498C>T , CM000669.1:g.116399498C>T | GRCh37 |
| NC_000007.12:g.116186734C>T | NCBI36 |
| NG_008996.1:g.92040C>T , LRG_662:g.92040C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422097.2:c.2318C>T | ENSP00000398776.2:p.Pro773Leu | |
| ENST00000436117.3:c.2264+824C>T | ENSP00000410980.2:n.2264+824C>T | |
| ENST00000318493.11:c.2372C>T | ENSP00000317272.6:p.Pro791Leu | |
| ENST00000397752.8:c.2318C>T MANE Select | ENSP00000380860.3:p.Pro773Leu | |
| ENST00000318493.10:c.2372C>T | ENSP00000317272.6:p.Pro791Leu | |
| ENST00000397752.7:c.2318C>T | ENSP00000380860.3:p.Pro773Leu | |
| ENST00000422097.1:c.158C>T | ENSP00000398776.1:p.Pro53Leu | |
| ENST00000436117.2:c.2264+824C>T | ENSP00000410980.2:n.2264+824C>T | |
| NM_000245.2:c.2318C>T | NP_000236.2:p.Pro773Leu | |
| NM_001127500.1:c.2372C>T , LRG_662t1:c.2372C>T | NP_001120972.1:p.Pro791Leu | |
| XM_006715990.2:c.1028C>T | XP_006716053.1:p.Pro343Leu | |
| XM_006715991.2:c.1028C>T | XP_006716054.1:p.Pro343Leu | |
| XM_011516223.1:c.2375C>T | XP_011514525.1:p.Pro792Leu | |
| NM_000245.3:c.2318C>T | NP_000236.2:p.Pro773Leu | |
| NM_001127500.2:c.2372C>T | NP_001120972.1:p.Pro791Leu | |
| NM_001324401.1:c.2318C>T | NP_001311330.1:p.Pro773Leu | |
| NM_001324402.1:c.1028C>T | NP_001311331.1:p.Pro343Leu | |
| XR_001744772.1:n.2495+824C>T | ||
| NM_001127500.3:c.2372C>T | NP_001120972.1:p.Pro791Leu | |
| NM_000245.4:c.2318C>T MANE Select | NP_000236.2:p.Pro773Leu | |
| NM_001324401.2:c.2318C>T | NP_001311330.1:p.Pro773Leu | |
| NM_001324402.2:c.1028C>T | NP_001311331.1:p.Pro343Leu | |
| NM_001324401.3:c.2318C>T | NP_001311330.1:p.Pro773Leu |