Linked Data
ClinVar Variation Id:
556504
dbSNP Id:
rs994902207
gnomAD v3:
4-1002730-A-T
gnomAD v4:
4-1002730-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1002730A>T , CM000666.2:g.1002730A>T | GRCh38 |
| NC_000004.11:g.996518A>T , CM000666.1:g.996518A>T | GRCh37 |
| NC_000004.10:g.986518A>T | NCBI36 |
| NG_008103.1:g.20734A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.1190-2A>T | ENSP00000247933.4:n.1190-2A>T | |
| ENST00000514224.2:c.1190-2A>T MANE Select | ENSP00000425081.2:n.1190-2A>T | |
| ENST00000652070.1:n.1246-2A>T | ||
| ENST00000247933.8:c.1190-2A>T | ENSP00000247933.4:n.1190-2A>T | |
| ENST00000514224.1:c.794-2A>T | ENSP00000425081.1:n.794-2A>T | |
| ENST00000514698.5:n.1297-2A>T | ||
| NM_000203.4:c.1190-2A>T | NP_000194.2:n.1190-2A>T | |
| NR_110313.1:n.1278-2A>T | ||
| XM_006713882.2:c.794-2A>T | XP_006713945.1:n.794-2A>T | |
| XM_011513459.1:c.1256-2A>T | XP_011511761.1:n.1256-2A>T | |
| XM_011513460.1:c.1049-2A>T | XP_011511762.1:n.1049-2A>T | |
| XM_011513461.1:c.983-2A>T | XP_011511763.1:n.983-2A>T | |
| XM_011513462.1:c.902-2A>T | XP_011511764.1:n.902-2A>T | |
| XM_011513463.1:c.902-2A>T | XP_011511765.1:n.902-2A>T | |
| XR_924947.1:n.1259-2A>T | ||
| NM_000203.5:c.1190-2A>T MANE Select | NP_000194.2:n.1190-2A>T | |
| NM_001363576.1:c.794-2A>T | NP_001350505.1:n.794-2A>T | |
| XM_011513461.2:c.983-2A>T | XP_011511763.1:n.983-2A>T | |
| XM_017008163.1:c.230-2A>T | XP_016863652.1:n.230-2A>T |