Linked Data
gnomAD v4:
2-189050633-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189050633C>A , CM000664.2:g.189050633C>A | GRCh38 |
| NC_000002.11:g.189915359C>A , CM000664.1:g.189915359C>A | GRCh37 |
| NC_000002.10:g.189623604C>A | NCBI36 |
| NG_011799.1:g.134247G>T | |
| NG_011799.2:g.134247G>T | |
| NG_011799.3:g.179669G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.2975G>T MANE Select | ENSP00000364000.3:p.Arg992Ile | |
| ENST00000374866.7:c.2975G>T | ENSP00000364000.3:p.Arg992Ile | |
| ENST00000618828.1:c.1814G>T | ENSP00000482184.1:p.Arg605Ile | |
| NM_000393.3:c.2975G>T | NP_000384.2:p.Arg992Ile | |
| XM_011510573.1:c.2837G>T | XP_011508875.1:p.Arg946Ile | |
| NM_000393.4:c.2975G>T | NP_000384.2:p.Arg992Ile | |
| XM_011510573.3:c.2837G>T | XP_011508875.1:p.Arg946Ile | |
| NM_000393.5:c.2975G>T MANE Select | NP_000384.2:p.Arg992Ile |