Linked Data
ClinVar Variation Id:
464748
ClinVar RCV Id:
RCV000596862
dbSNP Id:
rs143132529
gnomAD v2:
10-95518462-T-C
gnomAD v3:
10-93758705-T-C
gnomAD v4:
10-93758705-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.93758705T>C , CM000672.2:g.93758705T>C | GRCh38 |
| NC_000010.10:g.95518462T>C , CM000672.1:g.95518462T>C | GRCh37 |
| NC_000010.9:g.95508452T>C | NCBI36 |
| NG_011832.1:g.5897T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371418.9:c.216-55T>C MANE Select | ENSP00000360472.4:n.216-55T>C | |
| ENST00000635953.1:c.216-55T>C | ENSP00000490058.1:n.216-55T>C | |
| ENST00000636155.1:c.216-55T>C | ENSP00000490355.1:n.216-55T>C | |
| ENST00000636232.1:c.*2-55T>C | ENSP00000490325.1:n.*2-55T>C | |
| ENST00000636754.1:c.*6-55T>C | ENSP00000489781.1:n.*6-55T>C | |
| ENST00000636946.1:c.216-55T>C | ENSP00000490654.1:n.216-55T>C | |
| ENST00000637037.1:c.216-55T>C | ENSP00000490860.1:n.216-55T>C | |
| ENST00000637347.1:n.148+17T>C | ||
| ENST00000637611.1:c.216-55T>C | ENSP00000489682.1:n.216-55T>C | |
| ENST00000637689.1:c.-1156-55T>C | ENSP00000490496.1:n.-1156-55T>C | |
| ENST00000637925.1:c.216-55T>C | ENSP00000489763.1:n.216-55T>C | |
| ENST00000638049.1:c.133-55T>C | ENSP00000490597.1:n.133-55T>C | |
| ENST00000371413.4:c.216-55T>C | ENSP00000360467.3:n.216-55T>C | |
| ENST00000371418.8:c.216-55T>C | ENSP00000360472.4:n.216-55T>C | |
| ENST00000478763.2:c.216-55T>C | ENSP00000486517.1:n.216-55T>C | |
| ENST00000627420.2:c.*6-55T>C | ENSP00000487116.1:n.*6-55T>C | |
| ENST00000627699.1:c.*6-55T>C | ENSP00000485868.1:n.*6-55T>C | |
| ENST00000629035.2:c.215+346T>C | ENSP00000486908.1:n.215+346T>C | |
| ENST00000630047.2:c.216-55T>C | ENSP00000485917.1:n.216-55T>C | |
| ENST00000630184.2:c.216-55T>C | ENSP00000486607.1:n.216-55T>C | |
| ENST00000630487.2:c.*6-55T>C | ENSP00000486859.1:n.*6-55T>C | |
| NM_001308275.1:c.216-55T>C | NP_001295204.1:n.216-55T>C | |
| NM_001308276.1:c.216-55T>C | NP_001295205.1:n.216-55T>C | |
| NM_005097.2:c.216-55T>C | NP_005088.1:n.216-55T>C | |
| NM_005097.3:c.216-55T>C | NP_005088.1:n.216-55T>C | |
| NR_131777.1:n.561-55T>C | ||
| XM_017016911.2:c.216-55T>C | XP_016872400.1:n.216-55T>C | |
| XM_017016912.2:c.216-55T>C | XP_016872401.1:n.216-55T>C | |
| NM_005097.4:c.216-55T>C MANE Select | NP_005088.1:n.216-55T>C | |
| NM_001308275.2:c.216-55T>C | NP_001295204.1:n.216-55T>C | |
| NM_001308276.2:c.216-55T>C | NP_001295205.1:n.216-55T>C | |
| NR_131777.2:n.434-55T>C |