Linked Data
dbSNP Id:
rs370702825
ExAC:
6:32810557 G / T
gnomAD v2:
6-32810557-G-T
gnomAD v3:
6-32842780-G-T
gnomAD v4:
6-32842780-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32842780G>T , CM000668.2:g.32842780G>T | GRCh38 |
| NC_000006.11:g.32810557G>T , CM000668.1:g.32810557G>T | GRCh37 |
| NC_000006.10:g.32918535G>T | NCBI36 |
| NG_009793.3:g.991C>A | |
| NG_028165.1:g.7156C>A | |
| NG_009793.4:g.991C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650793.2:n.478C>A | ||
| ENST00000697612.1:n.1156C>A | ||
| ENST00000374881.3:c.287C>A | ENSP00000364015.2:p.Ala96Asp | |
| ENST00000374882.8:c.299C>A MANE Select | ENSP00000364016.4:p.Ala100Asp | |
| ENST00000650411.1:n.1620C>A | ||
| ENST00000650793.1:n.478C>A | ||
| ENST00000374881.2:c.287C>A | ENSP00000364015.2:p.Ala96Asp | |
| ENST00000374882.7:c.299C>A | ENSP00000364016.3:p.Ala100Asp | |
| ENST00000395339.7:c.296-69C>A | ENSP00000378748.3:n.296-69C>A | |
| ENST00000484003.1:n.683C>A | ||
| NM_004159.4:c.287C>A | NP_004150.1:p.Ala96Asp | |
| NM_148919.3:c.299C>A | NP_683720.2:p.Ala100Asp | |
| NM_148919.4:c.299C>A MANE Select | NP_683720.2:p.Ala100Asp | |
| NM_004159.5:c.287C>A | NP_004150.1:p.Ala96Asp |