Linked Data
ClinVar Variation Id:
5120
dbSNP Id:
rs119483085
gnomAD v2:
8-134270617-G-A
gnomAD v3:
8-133258374-G-A
gnomAD v4:
8-133258374-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133258374G>A , CM000670.2:g.133258374G>A | GRCh38 |
| NC_000008.10:g.134270617G>A , CM000670.1:g.134270617G>A | GRCh37 |
| NC_000008.9:g.134339799G>A | NCBI36 |
| NG_007943.1:g.43882C>T , LRG_258:g.43882C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323851.13:c.442C>T MANE Select | ENSP00000319977.8:p.Arg148Ter | |
| ENST00000519580.6:c.442C>T | ENSP00000429272.1:p.Arg148Ter | |
| ENST00000537882.3:c.442C>T | ENSP00000437443.2:p.Arg148Ter | |
| ENST00000676222.1:c.53C>T | ||
| ENST00000676444.1:n.473C>T | ||
| ENST00000323851.11:c.442C>T | ENSP00000319977.7:p.Arg148Ter | |
| ENST00000414097.6:c.442C>T | ENSP00000404854.2:p.Arg148Ter | |
| ENST00000517331.5:n.160C>T | ||
| ENST00000517599.5:c.*48C>T | ENSP00000429172.1:n.*48C>T | |
| ENST00000518010.5:n.526+794C>T | ||
| ENST00000518066.5:c.37-16318C>T | ENSP00000431057.1:n.37-16318C>T | |
| ENST00000518176.5:c.49-11711C>T | ENSP00000429007.1:n.49-11711C>T | |
| ENST00000518480.5:c.244C>T | ENSP00000428802.1:p.Arg82Ter | |
| ENST00000519228.5:c.442C>T | ENSP00000429994.1:p.Arg148Ter | |
| ENST00000519580.5:c.442C>T | ENSP00000429272.1:p.Arg148Ter | |
| ENST00000520230.5:c.493C>T | ENSP00000428345.1:p.Arg165Ter | |
| ENST00000522377.5:c.442C>T | ENSP00000429380.1:p.Arg148Ter | |
| ENST00000522476.5:c.244C>T | ENSP00000427894.1:p.Arg82Ter | |
| ENST00000522890.5:c.442C>T | ENSP00000428384.1:p.Arg148Ter | |
| ENST00000537882.2:c.199C>T | ENSP00000437443.1:p.Arg67Ter | |
| NM_001135242.1:c.442C>T | NP_001128714.1:p.Arg148Ter | |
| NM_001258432.1:c.244C>T | NP_001245361.1:p.Arg82Ter | |
| NM_001258433.1:c.199C>T | NP_001245362.1:p.Arg67Ter | |
| NM_006096.3:c.442C>T , LRG_258t1:c.442C>T | NP_006087.2:p.Arg148Ter | |
| XM_011516791.1:c.442C>T | XP_011515093.1:p.Arg148Ter | |
| NM_001135242.2:c.442C>T | NP_001128714.1:p.Arg148Ter | |
| NM_001258432.2:c.244C>T | NP_001245361.1:p.Arg82Ter | |
| NM_001258433.2:c.199C>T | NP_001245362.1:p.Arg67Ter | |
| NM_001374844.1:c.442C>T | NP_001361773.1:p.Arg148Ter | |
| NM_001374845.1:c.442C>T | NP_001361774.1:p.Arg148Ter | |
| NM_001374846.1:c.442C>T | NP_001361775.1:p.Arg148Ter | |
| NM_001374847.1:c.244C>T | NP_001361776.1:p.Arg82Ter | |
| NM_006096.4:c.442C>T MANE Select | NP_006087.2:p.Arg148Ter |