Linked Data
ClinVar Variation Id:
2885593
ClinVar RCV Id:
RCV003735522
dbSNP Id:
rs398123794
gnomAD v3:
2-71669191-G-C
gnomAD v4:
2-71669191-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71669191G>C , CM000664.2:g.71669191G>C | GRCh38 |
| NC_000002.11:g.71896321G>C , CM000664.1:g.71896321G>C | GRCh37 |
| NC_000002.10:g.71749829G>C | NCBI36 |
| NG_008694.1:g.220569G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698057.1:c.3040G>C | ENSP00000513536.1:p.Asp1014His | |
| ENST00000698058.1:c.2257G>C | ENSP00000513537.1:p.Asp753His | |
| ENST00000698059.1:c.2365G>C | ENSP00000513538.1:p.Asp789His | |
| ENST00000258104.8:c.5509G>C MANE Plus Clinical | ENSP00000258104.3:p.Asp1837His | |
| ENST00000410020.8:c.5626G>C MANE Select | ENSP00000386881.3:p.Asp1876His | |
| ENST00000258104.7:c.5509G>C | ENSP00000258104.3:p.Asp1837His | |
| ENST00000394120.6:c.5512G>C | ENSP00000377678.2:p.Asp1838His | |
| ENST00000409366.5:c.5575G>C | ENSP00000386512.1:p.Asp1859His | |
| ENST00000409582.7:c.5623G>C | ENSP00000386547.3:p.Asp1875His | |
| ENST00000409651.5:c.5605G>C | ENSP00000386683.1:p.Asp1869His | |
| ENST00000409744.5:c.5533G>C | ENSP00000386285.1:p.Asp1845His | |
| ENST00000409762.5:c.5560G>C | ENSP00000387137.1:p.Asp1854His | |
| ENST00000410020.7:c.5626G>C | ENSP00000386881.3:p.Asp1876His | |
| ENST00000410041.1:c.5563G>C | ENSP00000386617.1:p.Asp1855His | |
| ENST00000413539.6:c.5602G>C | ENSP00000407046.2:p.Asp1868His | |
| ENST00000429174.6:c.5572G>C | ENSP00000398305.2:p.Asp1858His | |
| ENST00000479049.6:n.2394G>C | ||
| NM_001130455.1:c.5512G>C | NP_001123927.1:p.Asp1838His | |
| NM_001130976.1:c.5467G>C | NP_001124448.1:p.Asp1823His | |
| NM_001130977.1:c.5530G>C | NP_001124449.1:p.Asp1844His | |
| NM_001130978.1:c.5572G>C | NP_001124450.1:p.Asp1858His | |
| NM_001130979.1:c.5602G>C | NP_001124451.1:p.Asp1868His | |
| NM_001130980.1:c.5560G>C | NP_001124452.1:p.Asp1854His | |
| NM_001130981.1:c.5623G>C | NP_001124453.1:p.Asp1875His | |
| NM_001130982.1:c.5605G>C | NP_001124454.1:p.Asp1869His | |
| NM_001130983.1:c.5575G>C | NP_001124455.1:p.Asp1859His | |
| NM_001130984.1:c.5533G>C | NP_001124456.1:p.Asp1845His | |
| NM_001130985.1:c.5563G>C | NP_001124457.1:p.Asp1855His | |
| NM_001130986.1:c.5470G>C | NP_001124458.1:p.Asp1824His | |
| NM_001130987.1:c.5626G>C | NP_001124459.1:p.Asp1876His | |
| NM_003494.3:c.5509G>C | NP_003485.1:p.Asp1837His | |
| XM_005264584.3:c.5668G>C | XP_005264641.1:p.Asp1890His | |
| XM_005264585.3:c.5665G>C | XP_005264642.1:p.Asp1889His | |
| XM_005264584.4:c.5668G>C | XP_005264641.1:p.Asp1890His | |
| XM_005264585.5:c.5665G>C | XP_005264642.1:p.Asp1889His | |
| NM_001130987.2:c.5626G>C MANE Select | NP_001124459.1:p.Asp1876His | |
| NM_001130455.2:c.5512G>C | NP_001123927.1:p.Asp1838His | |
| NM_001130976.2:c.5467G>C | NP_001124448.1:p.Asp1823His | |
| NM_001130977.2:c.5530G>C | NP_001124449.1:p.Asp1844His | |
| NM_001130978.2:c.5572G>C | NP_001124450.1:p.Asp1858His | |
| NM_001130979.2:c.5602G>C | NP_001124451.1:p.Asp1868His | |
| NM_001130980.2:c.5560G>C | NP_001124452.1:p.Asp1854His | |
| NM_001130981.2:c.5623G>C | NP_001124453.1:p.Asp1875His | |
| NM_001130982.2:c.5605G>C | NP_001124454.1:p.Asp1869His | |
| NM_001130983.2:c.5575G>C | NP_001124455.1:p.Asp1859His | |
| NM_001130984.2:c.5533G>C | NP_001124456.1:p.Asp1845His | |
| NM_001130985.2:c.5563G>C | NP_001124457.1:p.Asp1855His | |
| NM_001130986.2:c.5470G>C | NP_001124458.1:p.Asp1824His | |
| NM_003494.4:c.5509G>C MANE Plus Clinical | NP_003485.1:p.Asp1837His |