Linked Data
ClinVar Variation Id:
516443
dbSNP Id:
rs202159028
ExAC:
4:77089538 G / A
gnomAD v2:
4-77089538-G-A
gnomAD v3:
4-76168385-G-A
gnomAD v4:
4-76168385-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.76168385G>A , CM000666.2:g.76168385G>A | GRCh38 |
| NC_000004.11:g.77089538G>A , CM000666.1:g.77089538G>A | GRCh37 |
| NC_000004.10:g.77308562G>A | NCBI36 |
| NG_012054.1:g.50498C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682785.1:n.1163+18C>T | ||
| ENST00000264896.8:c.1187+18C>T MANE Select | ENSP00000264896.2:n.1187+18C>T | |
| ENST00000638295.1:c.713+18C>T | ENSP00000492288.1:n.713+18C>T | |
| ENST00000638372.1:n.1439+18C>T | ||
| ENST00000638603.1:c.1067+18C>T | ENSP00000491728.1:n.1067+18C>T | |
| ENST00000638663.1:c.1187+18C>T | ENSP00000491407.1:n.1187+18C>T | |
| ENST00000638680.1:n.2768+18C>T | ||
| ENST00000639145.1:c.1178+18C>T | ENSP00000492831.1:n.1178+18C>T | |
| ENST00000639300.1:c.*474+18C>T | ENSP00000492840.1:n.*474+18C>T | |
| ENST00000639715.1:c.1142+18C>T | ||
| ENST00000639738.1:c.276-2084C>T | ENSP00000491792.1:n.276-2084C>T | |
| ENST00000640341.1:c.*827+18C>T | ENSP00000492714.1:n.*827+18C>T | |
| ENST00000640634.1:c.1308+18C>T | ||
| ENST00000640640.1:c.1187+18C>T | ENSP00000492246.1:n.1187+18C>T | |
| ENST00000640957.1:c.1187+18C>T | ENSP00000492004.1:n.1187+18C>T | |
| ENST00000264896.6:c.1187+18C>T | ENSP00000264896.2:n.1187+18C>T | |
| ENST00000452464.6:c.758+18C>T | ENSP00000399154.2:n.758+18C>T | |
| NM_001204255.1:c.758+18C>T | NP_001191184.1:n.758+18C>T | |
| NM_005506.3:c.1187+18C>T | NP_005497.1:n.1187+18C>T | |
| NM_005506.4:c.1187+18C>T MANE Select | NP_005497.1:n.1187+18C>T | |
| NM_001204255.2:c.758+18C>T | NP_001191184.1:n.758+18C>T |