Linked Data
ClinVar Variation Id:
195641
dbSNP Id:
rs778768583
ExAC:
15:42703156 G / C
gnomAD v2:
15-42703156-G-C
gnomAD v4:
15-42410958-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42410958G>C , CM000677.2:g.42410958G>C | GRCh38 |
| NC_000015.9:g.42703156G>C , CM000677.1:g.42703156G>C | GRCh37 |
| NC_000015.8:g.40490448G>C | NCBI36 |
| NG_008660.1:g.67856G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337571.9:c.343G>C | ENSP00000336840.4:p.Asp115His | |
| ENST00000349748.8:c.2062G>C | ENSP00000183936.4:p.Asp688His | |
| ENST00000357568.8:c.2320G>C | ENSP00000350181.3:p.Asp774His | |
| ENST00000397163.8:c.2338G>C MANE Select | ENSP00000380349.3:p.Asp780His | |
| ENST00000397204.9:c.343G>C | ENSP00000380387.4:p.Asp115His | |
| ENST00000466222.7:n.751+32G>C | ||
| ENST00000466369.5:n.2829G>C | ||
| ENST00000495723.1:n.3209G>C | ||
| ENST00000549793.5:n.2551G>C | ||
| ENST00000562199.2:c.342G>C | ENSP00000501034.1:n.342G>C | |
| ENST00000567817.6:c.127G>C | ENSP00000456514.2:p.Asp43His | |
| ENST00000568153.2:c.204G>C | ||
| ENST00000569136.6:c.343G>C | ENSP00000455254.1:p.Asp115His | |
| ENST00000638141.2:n.2077G>C | ||
| ENST00000673646.1:c.902G>C | ENSP00000501007.1:n.902G>C | |
| ENST00000673684.1:n.320G>C | ||
| ENST00000673692.1:c.343G>C | ENSP00000501138.1:p.Asp115His | |
| ENST00000673705.1:c.881G>C | ENSP00000501021.1:n.881G>C | |
| ENST00000673743.1:c.241G>C | ENSP00000500989.1:p.Asp81His | |
| ENST00000673750.1:c.343G>C | ENSP00000501173.1:p.Asp115His | |
| ENST00000673771.1:c.343G>C | ENSP00000501023.1:p.Asp115His | |
| ENST00000673774.1:n.1471G>C | ||
| ENST00000673839.1:c.343G>C | ENSP00000501188.1:p.Asp115His | |
| ENST00000673851.1:c.343G>C | ENSP00000501142.1:p.Asp115His | |
| ENST00000673854.1:n.5760G>C | ||
| ENST00000673886.1:c.343G>C | ENSP00000501155.1:p.Asp115His | |
| ENST00000673890.1:c.343G>C | ENSP00000501293.1:p.Asp115His | |
| ENST00000673928.1:c.343G>C | ENSP00000501099.1:p.Asp115His | |
| ENST00000673936.1:c.343G>C | ENSP00000501189.1:p.Asp115His | |
| ENST00000673939.1:c.*100+32G>C | ENSP00000501129.1:n.*100+32G>C | |
| ENST00000673950.1:n.612G>C | ||
| ENST00000673978.1:c.481G>C | ENSP00000500976.1:p.Asp161His | |
| ENST00000673987.1:c.*100+32G>C | ENSP00000501231.1:n.*100+32G>C | |
| ENST00000674011.1:c.*132G>C | ENSP00000501171.1:n.*132G>C | |
| ENST00000674018.1:c.343G>C | ENSP00000501271.1:p.Asp115His | |
| ENST00000674027.1:n.489G>C | ||
| ENST00000674041.1:c.343G>C | ENSP00000500956.1:p.Asp115His | |
| ENST00000674052.1:c.562G>C | ENSP00000501057.1:p.Asp188His | |
| ENST00000674093.1:c.343G>C | ENSP00000501303.1:p.Asp115His | |
| ENST00000674119.1:c.343G>C | ENSP00000501217.1:p.Asp115His | |
| ENST00000674135.1:c.520G>C | ENSP00000501178.1:p.Asp174His | |
| ENST00000674139.1:c.343G>C | ENSP00000501054.1:p.Asp115His | |
| ENST00000674146.1:c.343G>C | ENSP00000501175.1:p.Asp115His | |
| ENST00000674149.1:c.343G>C | ENSP00000501112.1:p.Asp115His | |
| ENST00000318023.11:c.2194G>C | ENSP00000326281.8:p.Asp732His | |
| ENST00000337571.8:c.343G>C | ENSP00000336840.4:p.Asp115His | |
| ENST00000349748.7:c.2062G>C | ENSP00000183936.4:p.Asp688His | |
| ENST00000356316.7:c.343G>C | ENSP00000348667.4:p.Asp115His | |
| ENST00000357568.7:c.2320G>C | ENSP00000350181.3:p.Asp774His | |
| ENST00000397163.7:c.2338G>C | ENSP00000380349.3:p.Asp780His | |
| ENST00000397200.8:c.802G>C | ENSP00000380384.4:p.Asp268His | |
| ENST00000397204.8:c.343G>C | ENSP00000380387.4:p.Asp115His | |
| ENST00000466222.6:n.1261G>C | ||
| ENST00000561817.5:c.343G>C | ENSP00000456575.1:p.Asp115His | |
| ENST00000562199.1:n.342G>C | ||
| ENST00000564503.5:c.381G>C | ||
| ENST00000565274.5:c.516G>C | ENSP00000457759.1:n.516G>C | |
| ENST00000567817.5:c.154G>C | ENSP00000456514.1:p.Asp52His | |
| ENST00000568153.1:c.75G>C | ||
| ENST00000569136.5:c.343G>C | ENSP00000455254.1:p.Asp115His | |
| ENST00000569827.5:c.670G>C | ENSP00000454379.1:p.Asp224His | |
| NM_000070.2:c.2338G>C | NP_000061.1:p.Asp780His | |
| NM_024344.1:c.2320G>C | NP_077320.1:p.Asp774His | |
| NM_173087.1:c.2062G>C | NP_775110.1:p.Asp688His | |
| NM_173088.1:c.802G>C | NP_775111.1:p.Asp268His | |
| NM_173089.1:c.343G>C | NP_775112.1:p.Asp115His | |
| NM_173090.1:c.343G>C | NP_775113.1:p.Asp115His | |
| NM_000070.3:c.2338G>C MANE Select | NP_000061.1:p.Asp780His | |
| NM_024344.2:c.2320G>C | NP_077320.1:p.Asp774His | |
| NM_173087.2:c.2062G>C | NP_775110.1:p.Asp688His | |
| NM_173088.2:c.802G>C | NP_775111.1:p.Asp268His | |
| NM_173089.2:c.343G>C | NP_775112.1:p.Asp115His | |
| NM_173090.2:c.343G>C | NP_775113.1:p.Asp115His |