Linked Data
ClinVar Variation Id:
2928987
ClinVar RCV Id:
RCV003781713
dbSNP Id:
rs762460471
ExAC:
1:6532693 G / A
gnomAD v2:
1-6532693-G-A
gnomAD v3:
1-6472633-G-A
gnomAD v4:
1-6472633-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6472633G>A , CM000663.2:g.6472633G>A | GRCh38 |
| NC_000001.10:g.6532693G>A , CM000663.1:g.6532693G>A | GRCh37 |
| NC_000001.9:g.6455280G>A | NCBI36 |
| NG_007978.1:g.52377C>T , LRG_262:g.52377C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340850.10:c.985-11C>T | ENSP00000344570.5:n.985-11C>T | |
| ENST00000377728.8:c.985-11C>T MANE Select | ENSP00000366957.3:n.985-11C>T | |
| ENST00000377740.5:c.985-11C>T | ENSP00000366969.4:n.985-11C>T | |
| ENST00000377748.6:c.1159-11C>T | ENSP00000366977.2:n.1159-11C>T | |
| ENST00000400913.6:c.985-11C>T | ENSP00000383704.1:n.985-11C>T | |
| ENST00000400915.8:c.1096-11C>T | ENSP00000383706.4:n.1096-11C>T | |
| ENST00000489097.6:n.1461-11C>T | ||
| ENST00000535355.6:c.1192-11C>T | ENSP00000441445.1:n.1192-11C>T | |
| ENST00000537245.6:c.1096-11C>T | ENSP00000439625.2:n.1096-11C>T | |
| ENST00000673471.2:c.1282-11C>T | ENSP00000500749.1:n.1282-11C>T | |
| ENST00000674790.1:c.*1197-11C>T | ENSP00000502815.1:n.*1197-11C>T | |
| ENST00000675123.1:c.985-11C>T | ENSP00000502132.1:n.985-11C>T | |
| ENST00000675548.1:c.*813-11C>T | ENSP00000502684.1:n.*813-11C>T | |
| ENST00000675694.1:c.985-11C>T | ENSP00000501925.1:n.985-11C>T | |
| ENST00000340850.9:c.985-11C>T | ENSP00000344570.5:n.985-11C>T | |
| ENST00000377725.5:c.985-11C>T | ENSP00000366954.1:n.985-11C>T | |
| ENST00000377728.7:c.985-11C>T | ENSP00000366957.3:n.985-11C>T | |
| ENST00000377732.5:c.1096-11C>T | ENSP00000366961.1:n.1096-11C>T | |
| ENST00000377740.4:c.1216-11C>T | ENSP00000366969.3:n.1216-11C>T | |
| ENST00000377748.5:c.1216-11C>T | ENSP00000366977.1:n.1216-11C>T | |
| ENST00000400913.5:c.985-11C>T | ENSP00000383704.1:n.985-11C>T | |
| ENST00000400915.7:c.1153-11C>T | ENSP00000383706.3:n.1153-11C>T | |
| ENST00000489097.5:n.1461-11C>T | ||
| ENST00000535355.5:c.1192-11C>T | ENSP00000441445.1:n.1192-11C>T | |
| ENST00000537245.5:c.1222-11C>T | ENSP00000439625.1:n.1222-11C>T | |
| NM_001042663.1:c.1153-11C>T | NP_001036128.1:n.1153-11C>T | |
| NM_001042664.1:c.985-11C>T | NP_001036129.1:n.985-11C>T | |
| NM_001042665.1:c.985-11C>T | NP_001036130.1:n.985-11C>T | |
| NM_001265592.1:c.1222-11C>T | NP_001252521.1:n.1222-11C>T | |
| NM_001265593.1:c.1192-11C>T | NP_001252522.1:n.1192-11C>T | |
| NM_001265594.1:c.985-11C>T | NP_001252523.1:n.985-11C>T | |
| NM_020631.4:c.985-11C>T | NP_065682.2:n.985-11C>T | |
| NM_198681.3:c.1216-11C>T | NP_941374.2:n.1216-11C>T | |
| NM_001042663.2:c.1153-11C>T | NP_001036128.1:n.1153-11C>T | |
| NM_001265594.2:c.985-11C>T | NP_001252523.1:n.985-11C>T | |
| NM_020631.5:c.985-11C>T | NP_065682.2:n.985-11C>T | |
| NM_001042663.3:c.1096-11C>T | NP_001036128.2:n.1096-11C>T | |
| NM_001265592.2:c.1096-11C>T | NP_001252521.2:n.1096-11C>T | |
| NM_020631.6:c.985-11C>T MANE Select | NP_065682.2:n.985-11C>T | |
| NM_198681.4:c.985-11C>T | NP_941374.3:n.985-11C>T |