Linked Data
dbSNP Id:
rs370151930
ExAC:
3:178960800 A / C
gnomAD v2:
3-178960800-A-C
gnomAD v3:
3-179243012-A-C
gnomAD v4:
3-179243012-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179243012A>C , CM000665.2:g.179243012A>C | GRCh38 |
| NC_000003.11:g.178960800A>C , CM000665.1:g.178960800A>C | GRCh37 |
| NC_000003.10:g.180443494A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392685.7:c.720T>G MANE Select | ENSP00000376451.2:p.Tyr240Ter | |
| ENST00000314235.9:c.732T>G | ENSP00000319370.5:p.Tyr244Ter | |
| ENST00000349697.2:c.726T>G | ENSP00000327866.2:p.Tyr242Ter | |
| ENST00000392685.6:c.720T>G | ENSP00000376451.2:p.Tyr240Ter | |
| ENST00000392686.6:c.666T>G | ENSP00000376452.2:p.Tyr222Ter | |
| ENST00000485523.5:c.666T>G | ENSP00000418536.1:p.Tyr222Ter | |
| ENST00000486944.2:c.152+121T>G | ENSP00000479162.1:n.152+121T>G | |
| ENST00000497599.5:c.453+1483T>G | ENSP00000417091.1:n.453+1483T>G | |
| NM_001163677.1:c.453+1483T>G | NP_001157149.1:n.453+1483T>G | |
| NM_014407.3:c.732T>G | NP_055222.3:p.Tyr244Ter | |
| NM_171828.2:c.726T>G | NP_741979.1:p.Tyr242Ter | |
| NM_171829.2:c.666T>G | NP_741980.1:p.Tyr222Ter | |
| NM_171830.1:c.720T>G | NP_741981.1:p.Tyr240Ter | |
| NR_028135.1:n.1608T>G | ||
| NM_001163677.2:c.453+1483T>G | NP_001157149.1:n.453+1483T>G | |
| NM_171828.3:c.726T>G | NP_741979.1:p.Tyr242Ter | |
| NM_171829.3:c.666T>G | NP_741980.1:p.Tyr222Ter | |
| NR_028135.2:n.1608T>G | ||
| NM_171830.2:c.720T>G MANE Select | NP_741981.1:p.Tyr240Ter |