Linked Data
dbSNP Id:
rs771770353
ExAC:
14:91739133 C / T
gnomAD v2:
14-91739133-C-T
gnomAD v3:
14-91272789-C-T
gnomAD v4:
14-91272789-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91272789C>T , CM000676.2:g.91272789C>T | GRCh38 |
| NC_000014.8:g.91739133C>T , CM000676.1:g.91739133C>T | GRCh37 |
| NC_000014.7:g.90808886C>T | NCBI36 |
| NG_033118.1:g.150056G>A | |
| NG_033118.2:g.150056G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.5923G>A MANE Select | ENSP00000374507.6:p.Glu1975Lys | |
| ENST00000331194.8:c.1357G>A | ENSP00000330332.8:p.Glu453Lys | |
| ENST00000389857.10:c.5923G>A | ENSP00000374507.6:p.Glu1975Lys | |
| ENST00000556726.5:c.2151G>A | ||
| NM_001080414.3:c.5923G>A | NP_001073883.2:p.Glu1975Lys | |
| XM_011536796.1:c.5815G>A | XP_011535098.1:p.Glu1939Lys | |
| XM_011536796.2:c.5815G>A | XP_011535098.1:p.Glu1939Lys | |
| XM_017021336.1:c.3004G>A | XP_016876825.1:p.Glu1002Lys | |
| NM_001080414.4:c.5923G>A MANE Select | NP_001073883.2:p.Glu1975Lys |