Linked Data
ClinVar Variation Id:
322483
ClinVar RCV Id:
RCV000313424
dbSNP Id:
rs149239987
ExAC:
17:27065717 C / T
gnomAD v2:
17-27065717-C-T
gnomAD v3:
17-28738699-C-T
gnomAD v4:
17-28738699-C-T
COSMIC:
COSM283202
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.28738699C>T , CM000679.2:g.28738699C>T | GRCh38 |
| NC_000017.10:g.27065717C>T , CM000679.1:g.27065717C>T | GRCh37 |
| NC_000017.9:g.24089844C>T | NCBI36 |
| NG_012263.1:g.14886C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268766.11:c.1251C>T MANE Select | ENSP00000268766.6:p.Ser417= | |
| ENST00000268766.10:c.1251C>T | ENSP00000268766.6:p.Ser417= | |
| ENST00000543014.1:c.*28C>T | ENSP00000465859.1:n.*28C>T | |
| NM_178170.2:c.1251C>T | NP_835464.1:p.Ser417= | |
| XM_011524638.1:c.1362C>T | XP_011522940.1:p.Ser454= | |
| XM_011524639.1:c.1335C>T | XP_011522941.1:p.Ser445= | |
| XM_011524640.1:c.1323C>T | XP_011522942.1:p.Ser441= | |
| XM_011524641.1:c.1218C>T | XP_011522943.1:p.Ser406= | |
| XM_011524642.1:c.1218C>T | XP_011522944.1:p.Ser406= | |
| XM_011524643.1:c.1218C>T | XP_011522945.1:p.Ser406= | |
| XM_011524644.1:c.1041C>T | XP_011522946.1:p.Ser347= | |
| XM_011524645.1:c.*24C>T | XP_011522947.1:n.*24C>T | |
| XR_934448.1:n.1535C>T | ||
| NM_178170.3:c.1251C>T MANE Select | NP_835464.1:p.Ser417= | |
| XM_011524638.3:c.1362C>T | XP_011522940.1:p.Ser454= | |
| XM_011524640.3:c.1323C>T | XP_011522942.1:p.Ser441= | |
| XM_017024499.2:c.1290C>T | XP_016879988.1:p.Ser430= | |
| XM_017024500.2:c.1173C>T | XP_016879989.1:p.Ser391= | |
| XM_017024501.1:c.*24C>T | XP_016879990.1:n.*24C>T | |
| XR_001752497.2:n.1490C>T |