Linked Data
dbSNP Id:
rs1554967816
gnomAD v4:
11-17553438-G-A
MyVariant Identifiers:
chr11:g.17574985G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17553438G>A , CM000673.2:g.17553438G>A | GRCh38 |
| NC_000011.9:g.17574985G>A , CM000673.1:g.17574985G>A | GRCh37 |
| NC_000011.8:g.17531561G>A | NCBI36 |
| NG_033191.1:g.11066G>A | |
| NG_033191.2:g.11066G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.495G>A | ENSP00000382323.2:p.Gly165= | |
| ENST00000399397.6:c.459G>A MANE Select | ENSP00000382329.2:p.Gly153= | |
| ENST00000399391.6:c.495G>A | ENSP00000382323.2:p.Gly165= | |
| ENST00000399397.5:c.459G>A | ENSP00000382329.2:p.Gly153= | |
| ENST00000428619.1:c.276G>A | ENSP00000399057.2:p.Gly92= | |
| ENST00000498332.5:n.365G>A | ||
| NM_001277269.1:c.495G>A | NP_001264198.1:p.Gly165= | |
| NM_001292063.1:c.459G>A | NP_001278992.1:p.Gly153= | |
| NM_001277269.2:c.495G>A | NP_001264198.1:p.Gly165= | |
| NM_001292063.2:c.459G>A MANE Select | NP_001278992.1:p.Gly153= |