Linked Data
ClinVar Variation Id:
102654
dbSNP Id:
rs2037639
ExAC:
12:103271350 G / A
gnomAD v2:
12-103271350-G-A
gnomAD v3:
12-102877572-G-A
gnomAD v4:
12-102877572-G-A
ERepo:
CA229520/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102877572G>A , CM000674.2:g.102877572G>A | GRCh38 |
| NC_000012.11:g.103271350G>A , CM000674.1:g.103271350G>A | GRCh37 |
| NC_000012.10:g.101795480G>A | NCBI36 |
| NG_008690.1:g.45031C>T | |
| NG_008690.2:g.85839C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.353-22C>T MANE Select | ENSP00000448059.1:n.353-22C>T | |
| ENST00000307000.7:c.338-22C>T | ENSP00000303500.2:n.338-22C>T | |
| ENST00000549111.5:n.449-22C>T | ||
| ENST00000550978.6:c.337-22C>T | ||
| ENST00000551337.5:c.353-22C>T | ENSP00000447620.1:n.353-22C>T | |
| ENST00000551988.5:n.442-22C>T | ||
| ENST00000553106.5:c.353-22C>T | ENSP00000448059.1:n.353-22C>T | |
| NM_000277.1:c.353-22C>T | NP_000268.1:n.353-22C>T | |
| XM_011538422.1:c.353-22C>T | XP_011536724.1:n.353-22C>T | |
| NM_000277.2:c.353-22C>T | NP_000268.1:n.353-22C>T | |
| NM_001354304.1:c.353-22C>T | NP_001341233.1:n.353-22C>T | |
| XM_017019370.2:c.353-22C>T | XP_016874859.1:n.353-22C>T | |
| NM_000277.3:c.353-22C>T MANE Select | NP_000268.1:n.353-22C>T | |
| NM_001354304.2:c.353-22C>T | NP_001341233.1:n.353-22C>T |