Linked Data
ClinVar Variation Id:
280067
dbSNP Id:
rs573447174
gnomAD v3:
5-74696733-T-G
gnomAD v4:
5-74696733-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74696733T>G , CM000667.2:g.74696733T>G | GRCh38 |
| NC_000005.9:g.73992558T>G , CM000667.1:g.73992558T>G | GRCh37 |
| NC_000005.8:g.74028314T>G | NCBI36 |
| NG_009770.1:g.16590T>G | |
| NG_009770.2:g.61711T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261416.12:c.552T>G MANE Select | ENSP00000261416.7:p.Tyr184Ter | |
| ENST00000261416.11:c.552T>G | ENSP00000261416.7:p.Tyr184Ter | |
| ENST00000510820.1:n.271T>G | ||
| ENST00000511181.5:c.-124T>G | ENSP00000426285.1:n.-124T>G | |
| ENST00000513079.5:n.617T>G | ||
| NM_000521.3:c.552T>G | NP_000512.1:p.Tyr184Ter | |
| NM_001292004.1:c.-124T>G | NP_001278933.1:n.-124T>G | |
| NM_000521.4:c.552T>G MANE Select | NP_000512.2:p.Tyr184Ter | |
| NM_001292004.2:c.-124T>G | NP_001278933.1:n.-124T>G |