Linked Data
dbSNP Id:
rs768292157
ExAC:
12:103288688 A / G
gnomAD v2:
12-103288688-A-G
gnomAD v4:
12-102894910-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102894910A>G , CM000674.2:g.102894910A>G | GRCh38 |
| NC_000012.11:g.103288688A>G , CM000674.1:g.103288688A>G | GRCh37 |
| NC_000012.10:g.101812818A>G | NCBI36 |
| NG_008690.1:g.27693T>C | |
| NG_008690.2:g.68501T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.177T>C MANE Select | ENSP00000448059.1:p.Asp59= | |
| ENST00000307000.7:c.162T>C | ENSP00000303500.2:p.Asp54= | |
| ENST00000546844.1:c.177T>C | ENSP00000446658.1:p.Asp59= | |
| ENST00000548677.2:n.264T>C | ||
| ENST00000548928.1:n.99T>C | ||
| ENST00000549111.5:n.273T>C | ||
| ENST00000550978.6:c.161T>C | ||
| ENST00000551337.5:c.177T>C | ENSP00000447620.1:p.Asp59= | |
| ENST00000551988.5:n.266T>C | ||
| ENST00000553106.5:c.177T>C | ENSP00000448059.1:p.Asp59= | |
| ENST00000635500.1:n.145T>C | ||
| NM_000277.1:c.177T>C | NP_000268.1:p.Asp59= | |
| XM_011538422.1:c.177T>C | XP_011536724.1:p.Asp59= | |
| NM_000277.2:c.177T>C | NP_000268.1:p.Asp59= | |
| NM_001354304.1:c.177T>C | NP_001341233.1:p.Asp59= | |
| XM_017019370.2:c.177T>C | XP_016874859.1:p.Asp59= | |
| NM_000277.3:c.177T>C MANE Select | NP_000268.1:p.Asp59= | |
| NM_001354304.2:c.177T>C | NP_001341233.1:p.Asp59= |