Linked Data
gnomAD v4:
14-50130576-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50130576T>G , CM000676.2:g.50130576T>G | GRCh38 |
| NC_000014.8:g.50597294T>G , CM000676.1:g.50597294T>G | GRCh37 |
| NC_000014.7:g.49667044T>G | NCBI36 |
| NG_051073.1:g.106118A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.3262A>C MANE Select | ENSP00000216373.5:p.Thr1088Pro | |
| ENST00000216373.9:c.3262A>C | ENSP00000216373.5:p.Thr1088Pro | |
| ENST00000543680.5:c.3163A>C | ENSP00000445328.1:p.Thr1055Pro | |
| NM_006939.2:c.3262A>C | NP_008870.2:p.Thr1088Pro | |
| XM_005268021.1:c.3082A>C | XP_005268078.1:p.Thr1028Pro | |
| XM_011537103.1:c.3223A>C | XP_011535405.1:p.Thr1075Pro | |
| NM_006939.3:c.3262A>C | NP_008870.2:p.Thr1088Pro | |
| NM_006939.4:c.3262A>C MANE Select | NP_008870.2:p.Thr1088Pro |