Linked Data
ClinVar Variation Id:
135633
ClinVar RCV Id:
RCV000122606
dbSNP Id:
rs367537994
ExAC:
9:137005018 A / C
gnomAD v2:
9-137005018-A-C
gnomAD v3:
9-134139896-A-C
gnomAD v4:
9-134139896-A-C
PubMed:
PMID:26785492
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134139896A>C , CM000671.2:g.134139896A>C | GRCh38 |
| NC_000009.11:g.137005018A>C , CM000671.1:g.137005018A>C | GRCh37 |
| NC_000009.10:g.135994839A>C | NCBI36 |
| NG_047125.1:g.9218A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358625.4:c.19A>C MANE Select | ENSP00000351446.3:p.Lys7Gln | |
| ENST00000358625.3:c.19A>C | ENSP00000351446.3:p.Lys7Gln | |
| ENST00000608739.5:c.19A>C | ENSP00000477449.1:p.Lys7Gln | |
| ENST00000608937.5:c.19A>C | ENSP00000477000.1:p.Lys7Gln | |
| NM_017588.2:c.19A>C | NP_060058.1:p.Lys7Gln | |
| NM_052821.3:c.19A>C | NP_438172.1:p.Lys7Gln | |
| XM_005272163.1:c.19A>C | XP_005272220.1:p.Lys7Gln | |
| XM_005272163.2:c.19A>C | XP_005272220.1:p.Lys7Gln | |
| XM_024447393.1:c.19A>C | XP_024303161.1:p.Lys7Gln | |
| XM_024447394.1:c.19A>C | XP_024303162.1:p.Lys7Gln | |
| XM_024447395.1:c.19A>C | XP_024303163.1:p.Lys7Gln | |
| NM_017588.3:c.19A>C MANE Select | NP_060058.1:p.Lys7Gln | |
| NM_001384409.1:c.19A>C | NP_001371338.1:p.Lys7Gln | |
| NM_001384410.1:c.19A>C | NP_001371339.1:p.Lys7Gln | |
| NM_001384411.1:c.19A>C | NP_001371340.1:p.Lys7Gln | |
| NM_001384412.1:c.19A>C | NP_001371341.1:p.Lys7Gln | |
| NM_001384413.1:c.19A>C | NP_001371342.1:p.Lys7Gln | |
| NM_001384414.1:c.19A>C | NP_001371343.1:p.Lys7Gln | |
| NM_001384415.1:c.19A>C | NP_001371344.1:p.Lys7Gln | |
| NM_001384416.1:c.19A>C | NP_001371345.1:p.Lys7Gln | |
| NM_001384417.1:c.19A>C | NP_001371346.1:p.Lys7Gln | |
| NM_001384418.1:c.19A>C | NP_001371347.1:p.Lys7Gln | |
| NM_001384419.1:c.19A>C | NP_001371348.1:p.Lys7Gln | |
| NM_052821.4:c.19A>C | NP_438172.1:p.Lys7Gln |