Linked Data
ClinVar Variation Id:
314347
ClinVar RCV Id:
RCV000383201
dbSNP Id:
rs543449865
gnomAD v2:
14-75480680-G-C
gnomAD v3:
14-75013977-G-C
gnomAD v4:
14-75013977-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75013977G>C , CM000676.2:g.75013977G>C | GRCh38 |
| NC_000014.8:g.75480680G>C , CM000676.1:g.75480680G>C | GRCh37 |
| NC_000014.7:g.74550433G>C | NCBI36 |
| NG_008649.1:g.42556C>G , LRG_217:g.42556C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355774.7:c.*3105C>G MANE Select | ENSP00000348020.2:n.*3105C>G | |
| ENST00000355774.6:c.*3105C>G | ENSP00000348020.2:n.*3105C>G | |
| ENST00000380968.6:c.*3105C>G | ENSP00000370355.3:n.*3105C>G | |
| NM_001040108.1:c.*3105C>G , LRG_217t1:c.*3105C>G | NP_001035197.1:n.*3105C>G | |
| NM_014381.2:c.*3105C>G | NP_055196.2:n.*3105C>G | |
| XR_245681.2:n.6538C>G | ||
| XM_005267532.5:c.*3105C>G | XP_005267589.1:n.*3105C>G | |
| XM_005267533.5:c.*3105C>G | XP_005267590.1:n.*3105C>G | |
| XM_011536646.3:c.*3105C>G | XP_011534948.1:n.*3105C>G | |
| XM_024449538.1:c.*3105C>G | XP_024305306.1:n.*3105C>G | |
| XM_024449539.1:c.*3105C>G | XP_024305307.1:n.*3105C>G | |
| XR_001750229.2:n.6393C>G | ||
| XR_245681.4:n.6485C>G | ||
| NM_001040108.2:c.*3105C>G MANE Select | NP_001035197.1:n.*3105C>G | |
| NM_014381.3:c.*3105C>G | NP_055196.2:n.*3105C>G |