Linked Data
ClinVar Variation Id:
286696
dbSNP Id:
rs765102730
ExAC:
7:157175052 A / C
gnomAD v2:
7-157175052-A-C
gnomAD v4:
7-157382358-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.157382358A>C , CM000669.2:g.157382358A>C | GRCh38 |
| NC_000007.13:g.157175052A>C , CM000669.1:g.157175052A>C | GRCh37 |
| NC_000007.12:g.156867813A>C | NCBI36 |
| NG_032573.1:g.50343A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262177.9:c.459A>C MANE Select | ENSP00000262177.4:p.Gly153= | |
| ENST00000262177.8:c.459A>C | ENSP00000262177.4:p.Gly153= | |
| ENST00000417758.5:c.459A>C | ENSP00000400665.1:p.Gly153= | |
| ENST00000429029.6:c.459A>C | ENSP00000397556.2:p.Gly153= | |
| ENST00000443280.5:c.346+14875A>C | ENSP00000396267.1:n.346+14875A>C | |
| ENST00000459889.5:c.459A>C | ENSP00000488263.1:p.Gly153= | |
| ENST00000465908.5:n.255A>C | ||
| ENST00000468928.5:n.764A>C | ||
| ENST00000486247.1:n.279A>C | ||
| ENST00000487480.1:n.4234A>C | ||
| ENST00000634080.1:c.459A>C | ENSP00000488740.1:p.Gly153= | |
| NM_005494.2:c.459A>C | NP_005485.1:p.Gly153= | |
| NM_058246.3:c.459A>C | NP_490647.1:p.Gly153= | |
| XM_005249515.2:c.459A>C | XP_005249572.1:p.Gly153= | |
| XM_005249516.2:c.459A>C | XP_005249573.1:p.Gly153= | |
| XM_006715823.1:c.459A>C | XP_006715886.1:p.Gly153= | |
| XM_011515704.1:c.459A>C | XP_011514006.1:p.Gly153= | |
| NM_001363676.1:c.346+14875A>C | NP_001350605.1:n.346+14875A>C | |
| XM_005249515.3:c.459A>C | XP_005249572.1:p.Gly153= | |
| XM_006715823.2:c.459A>C | XP_006715886.1:p.Gly153= | |
| NM_058246.4:c.459A>C MANE Select | NP_490647.1:p.Gly153= | |
| NM_005494.3:c.459A>C | NP_005485.1:p.Gly153= |