Linked Data
dbSNP Id:
rs368397940
gnomAD v2:
16-84065597-G-T
gnomAD v3:
16-84031992-G-T
gnomAD v4:
16-84031992-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.84031992G>T , CM000678.2:g.84031992G>T | GRCh38 |
| NC_000016.9:g.84065597G>T , CM000678.1:g.84065597G>T | GRCh37 |
| NC_000016.8:g.82623098G>T | NCBI36 |
| NG_034136.1:g.15166C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299709.8:c.531-24C>A MANE Select | ENSP00000299709.3:n.531-24C>A | |
| ENST00000299709.7:c.531-24C>A | ENSP00000299709.3:n.531-24C>A | |
| ENST00000568178.1:c.531-24C>A | ENSP00000457737.1:n.531-24C>A | |
| NM_001080442.2:c.531-24C>A | NP_001073911.1:n.531-24C>A | |
| XM_011522872.1:c.531-24C>A | XP_011521174.1:n.531-24C>A | |
| XM_017022946.1:c.531-24C>A | XP_016878435.1:n.531-24C>A | |
| NM_001080442.3:c.531-24C>A MANE Select | NP_001073911.1:n.531-24C>A |