Linked Data
ClinVar Variation Id:
120275
dbSNP Id:
rs199475698
ExAC:
12:103271234 A / T
gnomAD v2:
12-103271234-A-T
gnomAD v4:
12-102877456-A-T
ERepo:
CA267654/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102877456A>T , CM000674.2:g.102877456A>T | GRCh38 |
| NC_000012.11:g.103271234A>T , CM000674.1:g.103271234A>T | GRCh37 |
| NC_000012.10:g.101795364A>T | NCBI36 |
| NG_008690.1:g.45147T>A | |
| NG_008690.2:g.85955T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.441+6T>A MANE Select | ENSP00000448059.1:n.441+6T>A | |
| ENST00000307000.7:c.426+6T>A | ENSP00000303500.2:n.426+6T>A | |
| ENST00000549111.5:n.537+6T>A | ||
| ENST00000550978.6:c.431T>A | ||
| ENST00000551988.5:n.530+6T>A | ||
| ENST00000553106.5:c.441+6T>A | ENSP00000448059.1:n.441+6T>A | |
| NM_000277.1:c.441+6T>A | NP_000268.1:n.441+6T>A | |
| XM_011538422.1:c.441+6T>A | XP_011536724.1:n.441+6T>A | |
| NM_000277.2:c.441+6T>A | NP_000268.1:n.441+6T>A | |
| NM_001354304.1:c.441+6T>A | NP_001341233.1:n.441+6T>A | |
| XM_017019370.2:c.441+6T>A | XP_016874859.1:n.441+6T>A | |
| NM_000277.3:c.441+6T>A MANE Select | NP_000268.1:n.441+6T>A | |
| NM_001354304.2:c.441+6T>A | NP_001341233.1:n.441+6T>A |