Linked Data
gnomAD v4:
14-50130554-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50130554G>A , CM000676.2:g.50130554G>A | GRCh38 |
| NC_000014.8:g.50597272G>A , CM000676.1:g.50597272G>A | GRCh37 |
| NC_000014.7:g.49667022G>A | NCBI36 |
| NG_051073.1:g.106140C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.3284C>T MANE Select | ENSP00000216373.5:p.Ser1095Phe | |
| ENST00000216373.9:c.3284C>T | ENSP00000216373.5:p.Ser1095Phe | |
| ENST00000543680.5:c.3185C>T | ENSP00000445328.1:p.Ser1062Phe | |
| NM_006939.2:c.3284C>T | NP_008870.2:p.Ser1095Phe | |
| XM_005268021.1:c.3104C>T | XP_005268078.1:p.Ser1035Phe | |
| XM_011537103.1:c.3245C>T | XP_011535405.1:p.Ser1082Phe | |
| NM_006939.3:c.3284C>T | NP_008870.2:p.Ser1095Phe | |
| NM_006939.4:c.3284C>T MANE Select | NP_008870.2:p.Ser1095Phe |