Linked Data
dbSNP Id:
rs755761266
ExAC:
16:2036031 G / A
gnomAD v2:
16-2036031-G-A
gnomAD v4:
16-1986030-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1986030G>A , CM000678.2:g.1986030G>A | GRCh38 |
| NC_000016.9:g.2036031G>A , CM000678.1:g.2036031G>A | GRCh37 |
| NC_000016.8:g.1976032G>A | NCBI36 |
| NG_016288.1:g.6882G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.*2G>A | ENSP00000455885.1:n.*2G>A | |
| ENST00000248114.7:c.*2G>A MANE Select | ENSP00000248114.6:n.*2G>A | |
| ENST00000248114.6:c.*2G>A | ENSP00000248114.6:n.*2G>A | |
| ENST00000565658.1:n.777G>A | ||
| ENST00000567719.1:c.*2G>A | ENSP00000455885.1:n.*2G>A | |
| ENST00000569451.1:c.*93G>A | ENSP00000456432.1:n.*93G>A | |
| NM_005262.2:c.*2G>A | NP_005253.3:n.*2G>A | |
| NM_005262.3:c.*2G>A MANE Select | NP_005253.3:n.*2G>A |