Linked Data
ClinVar Variation Id:
375391
dbSNP Id:
rs150331292
gnomAD v2:
4-184585162-C-T
gnomAD v4:
4-183664009-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.183664009C>T , CM000666.2:g.183664009C>T | GRCh38 |
| NC_000004.11:g.184585162C>T , CM000666.1:g.184585162C>T | GRCh37 |
| NC_000004.10:g.184822156C>T | NCBI36 |
| NG_033102.1:g.9743C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334690.11:c.142C>T MANE Select | ENSP00000335371.6:p.Arg48Ter | |
| ENST00000334690.10:c.142C>T | ENSP00000335371.6:p.Arg48Ter | |
| ENST00000357207.8:c.142C>T | ENSP00000349738.4:p.Arg48Ter | |
| ENST00000504526.1:n.288C>T | ||
| ENST00000505676.5:c.142C>T | ENSP00000422915.1:p.Arg48Ter | |
| NM_021942.5:c.142C>T | NP_068761.4:p.Arg48Ter | |
| NM_199053.2:c.142C>T | NP_951008.1:p.Arg48Ter | |
| XM_011532180.1:c.142C>T | XP_011530482.1:p.Arg48Ter | |
| XM_017008537.2:c.142C>T | XP_016864026.1:p.Arg48Ter | |
| XM_017008538.2:c.142C>T | XP_016864027.1:p.Arg48Ter | |
| XM_024454179.1:c.142C>T | XP_024309947.1:p.Arg48Ter | |
| XM_024454180.1:c.142C>T | XP_024309948.1:p.Arg48Ter | |
| XM_024454181.1:c.-1115C>T | XP_024309949.1:n.-1115C>T | |
| XR_001741315.2:n.334C>T | ||
| NM_021942.6:c.142C>T MANE Select | NP_068761.4:p.Arg48Ter | |
| NM_199053.3:c.142C>T | NP_951008.1:p.Arg48Ter |