Linked Data
ClinVar Variation Id:
1956065
ClinVar RCV Id:
RCV002700560
dbSNP Id:
rs919824349
gnomAD v2:
14-91739120-G-A
gnomAD v4:
14-91272776-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91272776G>A , CM000676.2:g.91272776G>A | GRCh38 |
| NC_000014.8:g.91739120G>A , CM000676.1:g.91739120G>A | GRCh37 |
| NC_000014.7:g.90808873G>A | NCBI36 |
| NG_033118.1:g.150069C>T | |
| NG_033118.2:g.150069C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.5936C>T MANE Select | ENSP00000374507.6:p.Ala1979Val | |
| ENST00000331194.8:c.1370C>T | ENSP00000330332.8:p.Ala457Val | |
| ENST00000389857.10:c.5936C>T | ENSP00000374507.6:p.Ala1979Val | |
| ENST00000556726.5:c.2164C>T | ||
| NM_001080414.3:c.5936C>T | NP_001073883.2:p.Ala1979Val | |
| XM_011536796.1:c.5828C>T | XP_011535098.1:p.Ala1943Val | |
| XM_011536796.2:c.5828C>T | XP_011535098.1:p.Ala1943Val | |
| XM_017021336.1:c.3017C>T | XP_016876825.1:p.Ala1006Val | |
| NM_001080414.4:c.5936C>T MANE Select | NP_001073883.2:p.Ala1979Val |