Linked Data
ClinVar Variation Id:
1927636
ClinVar RCV Id:
RCV002621797
dbSNP Id:
rs1773284013
MyVariant Identifiers:
chr6:g.129618937A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129297792A>G , CM000668.2:g.129297792A>G | GRCh38 |
| NC_000006.11:g.129618937A>G , CM000668.1:g.129618937A>G | GRCh37 |
| NC_000006.10:g.129660630A>G | NCBI36 |
| NG_008678.1:g.419652A>G , LRG_409:g.419652A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617695.5:c.2964A>G | ENSP00000481744.2:p.Gln988= | |
| ENST00000618192.5:c.3228A>G | ENSP00000480802.2:p.Gln1076= | |
| ENST00000421865.3:c.2964A>G MANE Select | ENSP00000400365.2:p.Gln988= | |
| ENST00000645154.1:c.479A>G | ||
| ENST00000421865.2:c.2964A>G | ENSP00000400365.2:p.Gln988= | |
| ENST00000617695.4:c.2964A>G | ENSP00000481744.1:p.Gln988= | |
| ENST00000618192.4:c.2964A>G | ENSP00000480802.1:p.Gln988= | |
| NM_000426.3:c.2964A>G , LRG_409t1:c.2964A>G | NP_000417.2:p.Gln988= | |
| NM_001079823.1:c.2964A>G | NP_001073291.1:p.Gln988= | |
| XM_005266981.2:c.3228A>G | XP_005267038.1:p.Gln1076= | |
| XM_005266982.2:c.3228A>G | XP_005267039.1:p.Gln1076= | |
| XM_011535820.1:c.3228A>G | XP_011534122.1:p.Gln1076= | |
| XM_005266981.3:c.3228A>G | XP_005267038.1:p.Gln1076= | |
| XM_005266982.3:c.3228A>G | XP_005267039.1:p.Gln1076= | |
| XM_011535820.2:c.3228A>G | XP_011534122.1:p.Gln1076= | |
| XM_017010851.2:c.3234A>G | XP_016866340.1:p.Gln1078= | |
| XM_017010852.1:c.1359A>G | XP_016866341.1:p.Gln453= | |
| XM_017010853.1:c.3228A>G | XP_016866342.1:p.Gln1076= | |
| NM_000426.4:c.2964A>G MANE Select | NP_000417.3:p.Gln988= | |
| NM_001079823.2:c.2964A>G | NP_001073291.2:p.Gln988= |