Linked Data
ClinVar Variation Id:
469439
ClinVar RCV Id:
RCV000527481
dbSNP Id:
rs144278795
ExAC:
2:109347314 C / G
gnomAD v2:
2-109347314-C-G
gnomAD v3:
2-108730858-C-G
gnomAD v4:
2-108730858-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108730858C>G , CM000664.2:g.108730858C>G | GRCh38 |
| NC_000002.11:g.109347314C>G , CM000664.1:g.109347314C>G | GRCh37 |
| NC_000002.10:g.108713746C>G | NCBI36 |
| NG_012210.1:g.16378C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697737.1:c.225C>G | ENSP00000513426.1:p.Asn75Lys | |
| ENST00000697738.1:n.334C>G | ||
| ENST00000697739.1:n.259C>G | ||
| ENST00000697740.1:c.147C>G | ENSP00000513427.1:p.Asn49Lys | |
| ENST00000283195.11:c.225C>G MANE Select | ENSP00000283195.6:p.Asn75Lys | |
| ENST00000283195.10:c.225C>G | ENSP00000283195.6:p.Asn75Lys | |
| ENST00000425282.4:c.141-464C>G | ENSP00000398970.2:n.141-464C>G | |
| ENST00000495924.1:n.42C>G | ||
| ENST00000629728.1:c.141-464C>G | ENSP00000485979.1:n.141-464C>G | |
| NM_006267.4:c.225C>G | NP_006258.3:p.Asn75Lys | |
| XM_005264002.1:c.225C>G | XP_005264059.1:p.Asn75Lys | |
| XM_005264003.1:c.225C>G | XP_005264060.1:p.Asn75Lys | |
| XM_005264004.1:c.225C>G | XP_005264061.1:p.Asn75Lys | |
| XM_005264005.3:c.147C>G | XP_005264062.1:p.Asn49Lys | |
| XM_005264007.1:c.225C>G | XP_005264064.1:p.Asn75Lys | |
| XM_011511575.1:c.222C>G | XP_011509877.1:p.Asn74Lys | |
| XM_011511576.1:c.225C>G | XP_011509878.1:p.Asn75Lys | |
| XM_011511578.1:c.222C>G | XP_011509880.1:p.Asn74Lys | |
| XM_005264002.3:c.225C>G | XP_005264059.1:p.Asn75Lys | |
| XM_005264003.3:c.225C>G | XP_005264060.1:p.Asn75Lys | |
| XM_005264004.3:c.225C>G | XP_005264061.1:p.Asn75Lys | |
| XM_005264005.4:c.147C>G | XP_005264062.1:p.Asn49Lys | |
| XM_005264007.3:c.225C>G | XP_005264064.1:p.Asn75Lys | |
| XM_011511575.2:c.222C>G | XP_011509877.1:p.Asn74Lys | |
| XM_011511576.3:c.225C>G | XP_011509878.1:p.Asn75Lys | |
| XM_011511578.2:c.222C>G | XP_011509880.1:p.Asn74Lys | |
| XM_017004623.2:c.225C>G | XP_016860112.1:p.Asn75Lys | |
| XM_017004624.2:c.225C>G | XP_016860113.1:p.Asn75Lys | |
| XM_017004625.1:c.225C>G | XP_016860114.1:p.Asn75Lys | |
| NM_006267.5:c.225C>G MANE Select | NP_006258.3:p.Asn75Lys |