Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50130570A>G , CM000676.2:g.50130570A>G | GRCh38 |
| NC_000014.8:g.50597288A>G , CM000676.1:g.50597288A>G | GRCh37 |
| NC_000014.7:g.49667038A>G | NCBI36 |
| NG_051073.1:g.106124T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.3268T>C MANE Select | ENSP00000216373.5:p.Ser1090Pro | |
| ENST00000216373.9:c.3268T>C | ENSP00000216373.5:p.Ser1090Pro | |
| ENST00000543680.5:c.3169T>C | ENSP00000445328.1:p.Ser1057Pro | |
| NM_006939.2:c.3268T>C | NP_008870.2:p.Ser1090Pro | |
| XM_005268021.1:c.3088T>C | XP_005268078.1:p.Ser1030Pro | |
| XM_011537103.1:c.3229T>C | XP_011535405.1:p.Ser1077Pro | |
| NM_006939.3:c.3268T>C | NP_008870.2:p.Ser1090Pro | |
| NM_006939.4:c.3268T>C MANE Select | NP_008870.2:p.Ser1090Pro |