Linked Data
ClinVar Variation Id:
839514
dbSNP Id:
rs200212844
ExAC:
17:27064882 C / T
gnomAD v2:
17-27064882-C-T
gnomAD v3:
17-28737864-C-T
gnomAD v4:
17-28737864-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.28737864C>T , CM000679.2:g.28737864C>T | GRCh38 |
| NC_000017.10:g.27064882C>T , CM000679.1:g.27064882C>T | GRCh37 |
| NC_000017.9:g.24089009C>T | NCBI36 |
| NG_012263.1:g.14051C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268766.11:c.935C>T MANE Select | ENSP00000268766.6:p.Ser312Leu | |
| ENST00000268766.10:c.935C>T | ENSP00000268766.6:p.Ser312Leu | |
| ENST00000543014.1:c.1095C>T | ENSP00000465859.1:p.Val365= | |
| ENST00000592510.1:c.495C>T | ||
| NM_178170.2:c.935C>T | NP_835464.1:p.Ser312Leu | |
| XM_011524638.1:c.1046C>T | XP_011522940.1:p.Ser349Leu | |
| XM_011524639.1:c.1019C>T | XP_011522941.1:p.Ser340Leu | |
| XM_011524640.1:c.1007C>T | XP_011522942.1:p.Ser336Leu | |
| XM_011524641.1:c.902C>T | XP_011522943.1:p.Ser301Leu | |
| XM_011524642.1:c.902C>T | XP_011522944.1:p.Ser301Leu | |
| XM_011524643.1:c.902C>T | XP_011522945.1:p.Ser301Leu | |
| XM_011524644.1:c.725C>T | XP_011522946.1:p.Ser242Leu | |
| XM_011524645.1:c.1173C>T | XP_011522947.1:p.Val391= | |
| XR_934448.1:n.1223C>T | ||
| NM_178170.3:c.935C>T MANE Select | NP_835464.1:p.Ser312Leu | |
| XM_011524638.3:c.1046C>T | XP_011522940.1:p.Ser349Leu | |
| XM_011524640.3:c.1007C>T | XP_011522942.1:p.Ser336Leu | |
| XM_017024499.2:c.974C>T | XP_016879988.1:p.Ser325Leu | |
| XM_017024500.2:c.857C>T | XP_016879989.1:p.Ser286Leu | |
| XM_017024501.1:c.1167C>T | XP_016879990.1:p.Val389= | |
| XR_001752497.2:n.1178C>T |