Linked Data
ClinVar Variation Id:
373582
dbSNP Id:
rs768806680
ExAC:
18:67715221 C / G
gnomAD v2:
18-67715221-C-G
gnomAD v4:
18-70047985-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.70047985C>G , CM000680.2:g.70047985C>G | GRCh38 |
| NC_000018.9:g.67715221C>G , CM000680.1:g.67715221C>G | GRCh37 |
| NC_000018.8:g.65866201C>G | NCBI36 |
| NG_033104.1:g.162742G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255674.11:c.5527G>C | ENSP00000255674.7:p.Asp1843His | |
| ENST00000579986.6:c.1614G>C | ENSP00000491518.1:n.1614G>C | |
| ENST00000639128.1:n.3073G>C | ||
| ENST00000639487.1:c.901G>C | ||
| ENST00000640769.2:c.5527G>C MANE Select | ENSP00000491507.1:p.Asp1843His | |
| ENST00000677824.1:c.2926G>C | ENSP00000504646.1:p.Asp976His | |
| ENST00000679113.1:c.2948G>C | ENSP00000504487.1:n.2948G>C | |
| ENST00000255674.10:c.5527G>C | ENSP00000255674.6:p.Asp1843His | |
| ENST00000581161.5:c.*3841G>C | ENSP00000462926.1:n.*3841G>C | |
| ENST00000583043.5:c.4808G>C | ENSP00000462733.1:n.4808G>C | |
| NM_173630.3:c.5527G>C | NP_775901.3:p.Asp1843His | |
| XM_005266679.1:c.2791G>C | XP_005266736.1:p.Asp931His | |
| XM_006722434.2:c.5530G>C | XP_006722497.1:p.Asp1844His | |
| XM_006722435.2:c.5530G>C | XP_006722498.1:p.Asp1844His | |
| XM_011525902.1:c.5290G>C | XP_011524204.1:p.Asp1764His | |
| XM_011525903.1:c.5101G>C | XP_011524205.1:p.Asp1701His | |
| XM_011525904.1:c.5530G>C | XP_011524206.1:p.Asp1844His | |
| XM_011525905.1:c.5326+3426G>C | XP_011524207.1:n.5326+3426G>C | |
| XM_011525906.1:c.4030G>C | XP_011524208.1:p.Asp1344His | |
| XR_430072.2:n.5568G>C | ||
| NM_001318520.1:c.2791G>C | NP_001305449.1:p.Asp931His | |
| XM_006722434.3:c.5530G>C | XP_006722497.1:p.Asp1844His | |
| XM_006722435.3:c.5530G>C | XP_006722498.1:p.Asp1844His | |
| XM_011525902.2:c.5290G>C | XP_011524204.1:p.Asp1764His | |
| XM_011525903.2:c.5101G>C | XP_011524205.1:p.Asp1701His | |
| XM_011525904.3:c.5530G>C | XP_011524206.1:p.Asp1844His | |
| XM_011525905.2:c.5326+3426G>C | XP_011524207.1:n.5326+3426G>C | |
| XM_011525906.2:c.4030G>C | XP_011524208.1:p.Asp1344His | |
| XM_017025693.1:c.5287G>C | XP_016881182.1:p.Asp1763His | |
| XM_017025694.1:c.4888G>C | XP_016881183.1:p.Asp1630His | |
| XM_017025695.1:c.4465G>C | XP_016881184.1:p.Asp1489His | |
| XM_017025696.1:c.3421G>C | XP_016881185.1:p.Asp1141His | |
| XM_024451139.1:c.4750G>C | XP_024306907.1:p.Asp1584His | |
| XM_024451140.1:c.4750G>C | XP_024306908.1:p.Asp1584His | |
| XR_430072.3:n.5598G>C | ||
| NM_001318520.2:c.2791G>C | NP_001305449.1:p.Asp931His | |
| NM_173630.4:c.5527G>C MANE Select | NP_775901.3:p.Asp1843His |