Linked Data
ClinVar Variation Id:
3020297
ClinVar RCV Id:
RCV003877472
dbSNP Id:
rs1557900231
gnomAD v4:
1-173904081-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173904081G>A , CM000663.2:g.173904081G>A | GRCh38 |
| NC_000001.10:g.173873219G>A , CM000663.1:g.173873219G>A | GRCh37 |
| NC_000001.9:g.172139842G>A | NCBI36 |
| NG_012462.1:g.18298C>T , LRG_577:g.18298C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.1219-16C>T MANE Select | ENSP00000356671.3:n.1219-16C>T | |
| ENST00000367698.3:c.1219-16C>T | ENSP00000356671.3:n.1219-16C>T | |
| ENST00000617423.4:c.604-16C>T | ENSP00000478688.1:n.604-16C>T | |
| NM_000488.3:c.1219-16C>T , LRG_577t1:c.1219-16C>T | NP_000479.1:n.1219-16C>T | |
| XM_005245198.2:c.1075-16C>T | XP_005245255.1:n.1075-16C>T | |
| NM_001365052.1:c.1075-16C>T | NP_001351981.1:n.1075-16C>T | |
| NM_000488.4:c.1219-16C>T MANE Select | NP_000479.1:n.1219-16C>T | |
| NM_001365052.2:c.1075-16C>T | NP_001351981.1:n.1075-16C>T | |
| NM_001386302.1:c.1342-16C>T | NP_001373231.1:n.1342-16C>T | |
| NM_001386303.1:c.1300-16C>T | NP_001373232.1:n.1300-16C>T | |
| NM_001386304.1:c.1198-16C>T | NP_001373233.1:n.1198-16C>T | |
| NM_001386305.1:c.1162-16C>T | NP_001373234.1:n.1162-16C>T | |
| NM_001386306.1:c.1003-16C>T | NP_001373235.1:n.1003-16C>T |