Linked Data
dbSNP Id:
rs756623714
ExAC:
10:96796900 G / A
gnomAD v2:
10-96796900-G-A
gnomAD v4:
10-95037143-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95037143G>A , CM000672.2:g.95037143G>A | GRCh38 |
| NC_000010.10:g.96796900G>A , CM000672.1:g.96796900G>A | GRCh37 |
| NC_000010.9:g.96786890G>A | NCBI36 |
| NG_007972.1:g.37355C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371270.6:c.1458C>T MANE Select | ENSP00000360317.3:p.Cys486= | |
| ENST00000371270.5:c.1458C>T | ENSP00000360317.3:p.Cys486= | |
| ENST00000490994.6:c.*1244C>T | ENSP00000433314.1:n.*1244C>T | |
| ENST00000525991.5:c.*1033C>T | ENSP00000433842.1:n.*1033C>T | |
| ENST00000526814.5:n.1713C>T | ||
| ENST00000527420.5:c.*315C>T | ENSP00000433191.1:n.*315C>T | |
| ENST00000527953.5:n.1752C>T | ||
| ENST00000533320.5:n.1692C>T | ||
| ENST00000535898.5:c.1152C>T | ENSP00000445062.1:p.Cys384= | |
| ENST00000539050.5:c.1248C>T | ENSP00000442343.2:p.Cys416= | |
| ENST00000623108.3:c.1248C>T | ENSP00000485110.1:p.Cys416= | |
| NM_000770.3:c.1458C>T MANE Select | NP_000761.3:p.Cys486= | |
| NM_001198853.1:c.1248C>T | NP_001185782.1:p.Cys416= | |
| NM_001198854.1:c.1152C>T | NP_001185783.1:p.Cys384= | |
| NM_001198855.1:c.1248C>T | NP_001185784.1:p.Cys416= |