Linked Data
dbSNP Id:
rs867998099
gnomAD v2:
17-2282440-C-T
gnomAD v3:
17-2379146-C-T
gnomAD v4:
17-2379146-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.2379146C>T , CM000679.2:g.2379146C>T | GRCh38 |
| NC_000017.10:g.2282440C>T , CM000679.1:g.2282440C>T | GRCh37 |
| NC_000017.9:g.2229190C>T | NCBI36 |
| NG_051965.1:g.46633C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268989.8:c.3010C>T MANE Select | ENSP00000268989.3:p.Arg1004Ter | |
| ENST00000268989.7:c.3010C>T | ENSP00000268989.3:p.Arg1004Ter | |
| ENST00000426855.6:c.2875C>T | ENSP00000415107.2:p.Arg959Ter | |
| ENST00000572841.1:n.774C>T | ||
| ENST00000573851.1:c.152C>T | ||
| ENST00000574563.5:c.2875C>T | ENSP00000459126.1:p.Arg959Ter | |
| NM_001098509.1:c.2875C>T | NP_001091979.1:p.Arg959Ter | |
| NM_014853.2:c.3010C>T | NP_055668.2:p.Arg1004Ter | |
| XM_011524101.1:c.3148C>T | XP_011522403.1:p.Arg1050Ter | |
| XM_011524102.1:c.3148C>T | XP_011522404.1:p.Arg1050Ter | |
| XM_011524103.1:c.3148C>T | XP_011522405.1:p.Arg1050Ter | |
| XM_011524104.1:c.3100C>T | XP_011522406.1:p.Arg1034Ter | |
| XM_011524105.1:c.3013C>T | XP_011522407.1:p.Arg1005Ter | |
| XM_011524106.1:c.3010C>T | XP_011522408.1:p.Arg1004Ter | |
| XM_011524107.1:c.2965C>T | XP_011522409.1:p.Arg989Ter | |
| XM_011524108.1:c.2875C>T | XP_011522410.1:p.Arg959Ter | |
| XR_934127.1:n.3245C>T | ||
| NM_001346700.1:c.2875C>T | NP_001333629.1:p.Arg959Ter | |
| XM_011524101.3:c.3148C>T | XP_011522403.1:p.Arg1050Ter | |
| XM_011524102.3:c.3148C>T | XP_011522404.1:p.Arg1050Ter | |
| XM_011524103.3:c.3148C>T | XP_011522405.1:p.Arg1050Ter | |
| XM_011524104.2:c.3100C>T | XP_011522406.1:p.Arg1034Ter | |
| XM_011524105.3:c.3013C>T | XP_011522407.1:p.Arg1005Ter | |
| XM_011524107.3:c.2965C>T | XP_011522409.1:p.Arg989Ter | |
| XM_017025474.2:c.3013C>T | XP_016880963.1:p.Arg1005Ter | |
| XM_017025475.2:c.3013C>T | XP_016880964.1:p.Arg1005Ter | |
| XM_017025476.1:c.2194C>T | XP_016880965.1:p.Arg732Ter | |
| XR_002958096.1:n.4805C>T | ||
| XR_934127.3:n.4341C>T | ||
| NM_014853.3:c.3010C>T MANE Select | NP_055668.2:p.Arg1004Ter | |
| NM_001098509.2:c.2875C>T | NP_001091979.1:p.Arg959Ter | |
| NM_001346700.2:c.2875C>T | NP_001333629.1:p.Arg959Ter |