Linked Data
dbSNP Id:
rs148910342
gnomAD v2:
4-17493531-G-A
gnomAD v3:
4-17491908-G-A
gnomAD v4:
4-17491908-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.17491908G>A , CM000666.2:g.17491908G>A | GRCh38 |
| NC_000004.11:g.17493531G>A , CM000666.1:g.17493531G>A | GRCh37 |
| NC_000004.10:g.17102629G>A | NCBI36 |
| NG_008763.1:g.25327C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706645.1:n.1592+324C>T | ||
| ENST00000281243.10:c.545+324C>T MANE Select | ENSP00000281243.5:n.545+324C>T | |
| ENST00000281243.9:c.545+324C>T | ENSP00000281243.5:n.545+324C>T | |
| ENST00000428702.6:c.452+324C>T | ENSP00000390944.2:n.452+324C>T | |
| ENST00000501943.6:n.282+324C>T | ||
| ENST00000505710.1:c.364-1163C>T | ||
| ENST00000507439.5:c.437-1163C>T | ENSP00000423227.1:n.437-1163C>T | |
| ENST00000508623.5:c.437-4672C>T | ENSP00000426377.1:n.437-4672C>T | |
| ENST00000511609.1:n.277+324C>T | ||
| ENST00000513615.5:c.437-1163C>T | ENSP00000422759.1:n.437-1163C>T | |
| ENST00000514300.1:c.*368-1163C>T | ENSP00000426039.1:n.*368-1163C>T | |
| NM_000320.2:c.545+324C>T | NP_000311.2:n.545+324C>T | |
| NM_001306140.1:c.452+324C>T | NP_001293069.1:n.452+324C>T | |
| XR_241677.1:n.600-1163C>T | ||
| NR_156494.1:n.617-1163C>T | ||
| NM_000320.3:c.545+324C>T MANE Select | NP_000311.2:n.545+324C>T | |
| NM_001306140.2:c.452+324C>T | NP_001293069.1:n.452+324C>T | |
| NR_156494.2:n.473-1163C>T |