Linked Data
ClinVar Variation Id:
92959
dbSNP Id:
rs35089085
ExAC:
6:129670476 C / T
gnomAD v2:
6-129670476-C-T
gnomAD v3:
6-129349331-C-T
gnomAD v4:
6-129349331-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129349331C>T , CM000668.2:g.129349331C>T | GRCh38 |
| NC_000006.11:g.129670476C>T , CM000668.1:g.129670476C>T | GRCh37 |
| NC_000006.10:g.129712169C>T | NCBI36 |
| NG_008678.1:g.471191C>T , LRG_409:g.471191C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000617695.5:c.4470C>T | ENSP00000481744.2:p.Asp1490= | |
| ENST00000618192.5:c.4734C>T | ENSP00000480802.2:p.Asp1578= | |
| ENST00000692206.1:n.119C>T | ||
| ENST00000421865.3:c.4470C>T MANE Select | ENSP00000400365.2:p.Asp1490= | |
| ENST00000421865.2:c.4470C>T | ENSP00000400365.2:p.Asp1490= | |
| ENST00000617695.4:c.4470C>T | ENSP00000481744.1:p.Asp1490= | |
| ENST00000618192.4:c.4470C>T | ENSP00000480802.1:p.Asp1490= | |
| NM_000426.3:c.4470C>T , LRG_409t1:c.4470C>T | NP_000417.2:p.Asp1490= | |
| NM_001079823.1:c.4470C>T | NP_001073291.1:p.Asp1490= | |
| XM_005266981.2:c.4734C>T | XP_005267038.1:p.Asp1578= | |
| XM_005266982.2:c.4734C>T | XP_005267039.1:p.Asp1578= | |
| XM_011535820.1:c.4734C>T | XP_011534122.1:p.Asp1578= | |
| XM_005266981.3:c.4734C>T | XP_005267038.1:p.Asp1578= | |
| XM_005266982.3:c.4734C>T | XP_005267039.1:p.Asp1578= | |
| XM_011535820.2:c.4734C>T | XP_011534122.1:p.Asp1578= | |
| XM_017010851.2:c.4740C>T | XP_016866340.1:p.Asp1580= | |
| XM_017010852.1:c.2865C>T | XP_016866341.1:p.Asp955= | |
| XM_017010853.1:c.4734C>T | XP_016866342.1:p.Asp1578= | |
| NM_000426.4:c.4470C>T MANE Select | NP_000417.3:p.Asp1490= | |
| NM_001079823.2:c.4470C>T | NP_001073291.2:p.Asp1490= |