Linked Data
ClinVar Variation Id:
1439162
ClinVar RCV Id:
RCV001958046
dbSNP Id:
rs767990485
gnomAD v4:
2-108753523-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108753523A>C , CM000664.2:g.108753523A>C | GRCh38 |
| NC_000002.11:g.109369979A>C , CM000664.1:g.109369979A>C | GRCh37 |
| NC_000002.10:g.108736411A>C | NCBI36 |
| NG_012210.1:g.39043A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697737.1:c.2015A>C | ENSP00000513426.1:p.Glu672Ala | |
| ENST00000697740.1:c.1937A>C | ENSP00000513427.1:p.Glu646Ala | |
| ENST00000283195.11:c.2015A>C MANE Select | ENSP00000283195.6:p.Glu672Ala | |
| ENST00000283195.10:c.2015A>C | ENSP00000283195.6:p.Glu672Ala | |
| NM_006267.4:c.2015A>C | NP_006258.3:p.Glu672Ala | |
| XM_005264002.1:c.2015A>C | XP_005264059.1:p.Glu672Ala | |
| XM_005264003.1:c.2015A>C | XP_005264060.1:p.Glu672Ala | |
| XM_005264004.1:c.2015A>C | XP_005264061.1:p.Glu672Ala | |
| XM_005264005.3:c.1937A>C | XP_005264062.1:p.Glu646Ala | |
| XM_005264007.1:c.2015A>C | XP_005264064.1:p.Glu672Ala | |
| XM_011511575.1:c.2012A>C | XP_011509877.1:p.Glu671Ala | |
| XM_011511576.1:c.2015A>C | XP_011509878.1:p.Glu672Ala | |
| XM_011511578.1:c.2012A>C | XP_011509880.1:p.Glu671Ala | |
| XM_005264002.3:c.2015A>C | XP_005264059.1:p.Glu672Ala | |
| XM_005264003.3:c.2015A>C | XP_005264060.1:p.Glu672Ala | |
| XM_005264004.3:c.2015A>C | XP_005264061.1:p.Glu672Ala | |
| XM_005264005.4:c.1937A>C | XP_005264062.1:p.Glu646Ala | |
| XM_005264007.3:c.2015A>C | XP_005264064.1:p.Glu672Ala | |
| XM_011511575.2:c.2012A>C | XP_011509877.1:p.Glu671Ala | |
| XM_011511576.3:c.2015A>C | XP_011509878.1:p.Glu672Ala | |
| XM_011511578.2:c.2012A>C | XP_011509880.1:p.Glu671Ala | |
| XM_017004623.2:c.2015A>C | XP_016860112.1:p.Glu672Ala | |
| XM_017004624.2:c.2015A>C | XP_016860113.1:p.Glu672Ala | |
| XM_017004625.1:c.2015A>C | XP_016860114.1:p.Glu672Ala | |
| NM_006267.5:c.2015A>C MANE Select | NP_006258.3:p.Glu672Ala |