Linked Data
dbSNP Id:
rs770751352
ExAC:
4:155490966 C / T
gnomAD v2:
4-155490966-C-T
gnomAD v4:
4-154569814-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154569814C>T , CM000666.2:g.154569814C>T | GRCh38 |
| NC_000004.11:g.155490966C>T , CM000666.1:g.155490966C>T | GRCh37 |
| NC_000004.10:g.155710416C>T | NCBI36 |
| NG_008833.1:g.11835C>T , LRG_558:g.11835C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302068.9:c.1244+15C>T MANE Select | ENSP00000306099.4:n.1244+15C>T | |
| ENST00000302068.8:c.1244+15C>T | ENSP00000306099.4:n.1244+15C>T | |
| ENST00000502545.5:n.939+507C>T | ||
| ENST00000509493.1:c.587+15C>T | ENSP00000426757.1:n.587+15C>T | |
| NM_001184741.1:c.1067+15C>T | NP_001171670.1:n.1067+15C>T | |
| NM_005141.4:c.1244+15C>T , LRG_558t1:c.1244+15C>T | NP_005132.2:n.1244+15C>T | |
| NM_001382759.1:c.1112+15C>T | NP_001369688.1:n.1112+15C>T | |
| NM_001382760.1:c.1244+15C>T | NP_001369689.1:n.1244+15C>T | |
| NM_001382761.1:c.1244+15C>T | NP_001369690.1:n.1244+15C>T | |
| NM_001382762.1:c.944+15C>T | NP_001369691.1:n.944+15C>T | |
| NM_001382763.1:c.1235+15C>T | NP_001369692.1:n.1235+15C>T | |
| NM_001382764.1:c.*18+15C>T | NP_001369693.1:n.*18+15C>T | |
| NM_001382765.1:c.1220+39C>T | NP_001369694.1:n.1220+39C>T | |
| NM_005141.5:c.1244+15C>T MANE Select | NP_005132.2:n.1244+15C>T |