Linked Data
dbSNP Id:
rs1207756990
gnomAD v2:
14-91739154-C-A
gnomAD v3:
14-91272810-C-A
gnomAD v4:
14-91272810-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91272810C>A , CM000676.2:g.91272810C>A | GRCh38 |
| NC_000014.8:g.91739154C>A , CM000676.1:g.91739154C>A | GRCh37 |
| NC_000014.7:g.90808907C>A | NCBI36 |
| NG_033118.1:g.150035G>T | |
| NG_033118.2:g.150035G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.5902G>T MANE Select | ENSP00000374507.6:p.Val1968Phe | |
| ENST00000331194.8:c.1336G>T | ENSP00000330332.8:p.Val446Phe | |
| ENST00000389857.10:c.5902G>T | ENSP00000374507.6:p.Val1968Phe | |
| ENST00000556726.5:c.2130G>T | ||
| NM_001080414.3:c.5902G>T | NP_001073883.2:p.Val1968Phe | |
| XM_011536796.1:c.5794G>T | XP_011535098.1:p.Val1932Phe | |
| XM_011536796.2:c.5794G>T | XP_011535098.1:p.Val1932Phe | |
| XM_017021336.1:c.2983G>T | XP_016876825.1:p.Val995Phe | |
| NM_001080414.4:c.5902G>T MANE Select | NP_001073883.2:p.Val1968Phe |