Linked Data
dbSNP Id:
rs1243813451
gnomAD v2:
12-103288726-A-G
gnomAD v3:
12-102894948-A-G
gnomAD v4:
12-102894948-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102894948A>G , CM000674.2:g.102894948A>G | GRCh38 |
| NC_000012.11:g.103288726A>G , CM000674.1:g.103288726A>G | GRCh37 |
| NC_000012.10:g.101812856A>G | NCBI36 |
| NG_008690.1:g.27655T>C | |
| NG_008690.2:g.68463T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.169-30T>C MANE Select | ENSP00000448059.1:n.169-30T>C | |
| ENST00000307000.7:c.154-30T>C | ENSP00000303500.2:n.154-30T>C | |
| ENST00000546844.1:c.169-30T>C | ENSP00000446658.1:n.169-30T>C | |
| ENST00000548677.2:n.256-30T>C | ||
| ENST00000548928.1:n.91-30T>C | ||
| ENST00000549111.5:n.265-30T>C | ||
| ENST00000550978.6:c.153-30T>C | ||
| ENST00000551337.5:c.169-30T>C | ENSP00000447620.1:n.169-30T>C | |
| ENST00000551988.5:n.258-30T>C | ||
| ENST00000553106.5:c.169-30T>C | ENSP00000448059.1:n.169-30T>C | |
| ENST00000635500.1:n.137-30T>C | ||
| NM_000277.1:c.169-30T>C | NP_000268.1:n.169-30T>C | |
| XM_011538422.1:c.169-30T>C | XP_011536724.1:n.169-30T>C | |
| NM_000277.2:c.169-30T>C | NP_000268.1:n.169-30T>C | |
| NM_001354304.1:c.169-30T>C | NP_001341233.1:n.169-30T>C | |
| XM_017019370.2:c.169-30T>C | XP_016874859.1:n.169-30T>C | |
| NM_000277.3:c.169-30T>C MANE Select | NP_000268.1:n.169-30T>C | |
| NM_001354304.2:c.169-30T>C | NP_001341233.1:n.169-30T>C |