Linked Data
dbSNP Id:
rs377625030
ExAC:
6:24528213 C / T
gnomAD v2:
6-24528213-C-T
gnomAD v4:
6-24527985-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24527985C>T , CM000668.2:g.24527985C>T | GRCh38 |
| NC_000006.11:g.24528213C>T , CM000668.1:g.24528213C>T | GRCh37 |
| NC_000006.10:g.24636192C>T | NCBI36 |
| NG_008161.1:g.38017C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.1174-12C>T MANE Select | ENSP00000350191.3:n.1174-12C>T | |
| ENST00000479394.2:n.289-12C>T | ||
| ENST00000672352.1:c.793-12C>T | ENSP00000500876.1:n.793-12C>T | |
| ENST00000672652.1:c.1137-12C>T | ||
| ENST00000348925.2:c.1213-12C>T | ENSP00000314649.3:n.1213-12C>T | |
| ENST00000357578.7:c.1174-12C>T | ENSP00000350191.3:n.1174-12C>T | |
| ENST00000479394.1:n.289-12C>T | ||
| ENST00000491546.5:c.1090-12C>T | ENSP00000417687.1:n.1090-12C>T | |
| NM_001080.3:c.1174-12C>T MANE Select | NP_001071.1:n.1174-12C>T | |
| NM_170740.1:c.1213-12C>T | NP_733936.1:n.1213-12C>T | |
| NM_001368954.1:c.1030-12C>T | NP_001355883.1:n.1030-12C>T |