Linked Data
ClinVar Variation Id:
1943030
ClinVar RCV Id:
RCV002670756
dbSNP Id:
rs199475571
gnomAD v2:
12-103271310-G-T
gnomAD v3:
12-102877532-G-T
gnomAD v4:
12-102877532-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102877532G>T , CM000674.2:g.102877532G>T | GRCh38 |
| NC_000012.11:g.103271310G>T , CM000674.1:g.103271310G>T | GRCh37 |
| NC_000012.10:g.101795440G>T | NCBI36 |
| NG_008690.1:g.45071C>A | |
| NG_008690.2:g.85879C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.371C>A MANE Select | ENSP00000448059.1:p.Thr124Asn | |
| ENST00000307000.7:c.356C>A | ENSP00000303500.2:p.Thr119Asn | |
| ENST00000549111.5:n.467C>A | ||
| ENST00000550978.6:c.355C>A | ||
| ENST00000551337.5:c.371C>A | ENSP00000447620.1:p.Thr124Asn | |
| ENST00000551988.5:n.460C>A | ||
| ENST00000553106.5:c.371C>A | ENSP00000448059.1:p.Thr124Asn | |
| NM_000277.1:c.371C>A | NP_000268.1:p.Thr124Asn | |
| XM_011538422.1:c.371C>A | XP_011536724.1:p.Thr124Asn | |
| NM_000277.2:c.371C>A | NP_000268.1:p.Thr124Asn | |
| NM_001354304.1:c.371C>A | NP_001341233.1:p.Thr124Asn | |
| XM_017019370.2:c.371C>A | XP_016874859.1:p.Thr124Asn | |
| NM_000277.3:c.371C>A MANE Select | NP_000268.1:p.Thr124Asn | |
| NM_001354304.2:c.371C>A | NP_001341233.1:p.Thr124Asn |