Linked Data
ClinVar Variation Id:
65408
dbSNP Id:
rs375661404
ExAC:
17:27068158 C / T
gnomAD v2:
17-27068158-C-T
gnomAD v3:
17-28741140-C-T
gnomAD v4:
17-28741140-C-T
PubMed:
PMID:23418306
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.28741140C>T , CM000679.2:g.28741140C>T | GRCh38 |
| NC_000017.10:g.27068158C>T , CM000679.1:g.27068158C>T | GRCh37 |
| NC_000017.9:g.24092285C>T | NCBI36 |
| NG_012263.1:g.17327C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268766.11:c.1795C>T MANE Select | ENSP00000268766.6:p.Arg599Ter | |
| ENST00000268766.10:c.1795C>T | ENSP00000268766.6:p.Arg599Ter | |
| ENST00000543014.1:c.*119-359C>T | ENSP00000465859.1:n.*119-359C>T | |
| NM_178170.2:c.1795C>T | NP_835464.1:p.Arg599Ter | |
| XM_011524638.1:c.1906C>T | XP_011522940.1:p.Arg636Ter | |
| XM_011524639.1:c.1879C>T | XP_011522941.1:p.Arg627Ter | |
| XM_011524640.1:c.1867C>T | XP_011522942.1:p.Arg623Ter | |
| XM_011524641.1:c.1762C>T | XP_011522943.1:p.Arg588Ter | |
| XM_011524642.1:c.1762C>T | XP_011522944.1:p.Arg588Ter | |
| XM_011524643.1:c.1762C>T | XP_011522945.1:p.Arg588Ter | |
| XM_011524644.1:c.1585C>T | XP_011522946.1:p.Arg529Ter | |
| NM_178170.3:c.1795C>T MANE Select | NP_835464.1:p.Arg599Ter | |
| XM_011524638.3:c.1906C>T | XP_011522940.1:p.Arg636Ter | |
| XM_011524640.3:c.1867C>T | XP_011522942.1:p.Arg623Ter | |
| XM_017024499.2:c.1834C>T | XP_016879988.1:p.Arg612Ter | |
| XM_017024500.2:c.1717C>T | XP_016879989.1:p.Arg573Ter | |
| XR_001752497.2:n.2034C>T |