Linked Data
ClinVar Variation Id:
1244361
ClinVar RCV Id:
RCV001655954
dbSNP Id:
rs515432
gnomAD v2:
6-52344662-A-C
gnomAD v3:
6-52479864-A-C
gnomAD v4:
6-52479864-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52479864A>C , CM000668.2:g.52479864A>C | GRCh38 |
| NC_000006.11:g.52344662A>C , CM000668.1:g.52344662A>C | GRCh37 |
| NC_000006.10:g.52452621A>C | NCBI36 |
| NG_016760.1:g.64669A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371068.11:c.1640+77A>C MANE Select | ENSP00000360107.4:n.1640+77A>C | |
| ENST00000480623.6:c.1640+77A>C | ENSP00000434498.2:n.1640+77A>C | |
| ENST00000635760.1:c.1316+77A>C | ENSP00000489765.1:n.1316+77A>C | |
| ENST00000635812.1:c.*941+77A>C | ENSP00000490859.1:n.*941+77A>C | |
| ENST00000635866.1:c.*1509+77A>C | ENSP00000489866.1:n.*1509+77A>C | |
| ENST00000635911.1:n.3158+77A>C | ||
| ENST00000635984.1:c.1316+77A>C | ENSP00000489921.1:n.1316+77A>C | |
| ENST00000635996.1:c.1640+77A>C | ENSP00000490256.1:n.1640+77A>C | |
| ENST00000636107.1:c.1640+77A>C | ENSP00000489680.1:n.1640+77A>C | |
| ENST00000636311.1:n.1534+77A>C | ||
| ENST00000636343.1:c.1306+77A>C | ||
| ENST00000636379.1:c.1352+77A>C | ENSP00000490622.1:n.1352+77A>C | |
| ENST00000636398.1:c.1340+77A>C | ENSP00000489654.1:n.1340+77A>C | |
| ENST00000636489.1:c.1583+77A>C | ENSP00000489998.1:n.1583+77A>C | |
| ENST00000636616.1:n.1201+77A>C | ||
| ENST00000636702.1:c.1610+77A>C | ENSP00000489623.1:n.1610+77A>C | |
| ENST00000636954.1:c.1583+77A>C | ENSP00000489966.1:n.1583+77A>C | |
| ENST00000637089.1:c.1640+77A>C | ENSP00000489854.1:n.1640+77A>C | |
| ENST00000637121.1:n.1442+77A>C | ||
| ENST00000637263.1:c.*58A>C | ENSP00000489700.1:n.*58A>C | |
| ENST00000637340.1:n.3565+77A>C | ||
| ENST00000637353.1:c.1640+77A>C | ENSP00000490441.1:n.1640+77A>C | |
| ENST00000637602.1:c.*1341+77A>C | ENSP00000490074.1:n.*1341+77A>C | |
| ENST00000637849.1:n.1704+77A>C | ||
| ENST00000637892.1:n.1844+77A>C | ||
| ENST00000371068.9:c.1640+77A>C | ENSP00000360107.4:n.1640+77A>C | |
| ENST00000480623.5:c.*2060+77A>C | ENSP00000434498.1:n.*2060+77A>C | |
| ENST00000538167.2:c.1583+77A>C | ENSP00000444521.1:n.1583+77A>C | |
| NM_001172420.1:c.1583+77A>C | NP_001165891.1:n.1583+77A>C | |
| NM_018100.3:c.1640+77A>C | NP_060570.2:n.1640+77A>C | |
| NR_033327.1:n.3112+77A>C | ||
| NM_018100.4:c.1640+77A>C MANE Select | NP_060570.2:n.1640+77A>C | |
| NM_001172420.2:c.1583+77A>C | NP_001165891.1:n.1583+77A>C | |
| NR_033327.2:n.2966+77A>C |