Linked Data
dbSNP Id:
rs3020331
gnomAD v2:
6-152008780-C-T
gnomAD v3:
6-151687645-C-T
gnomAD v4:
6-151687645-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151687645C>T , CM000668.2:g.151687645C>T | GRCh38 |
| NC_000006.11:g.152008780C>T , CM000668.1:g.152008780C>T | GRCh37 |
| NC_000006.10:g.152050473C>T | NCBI36 |
| NG_008493.1:g.2150C>T | |
| NG_008493.2:g.35955C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000473497.5:n.74-14230C>T | ||
| XM_017010376.1:c.-201-14230C>T | XP_016865865.1:n.-201-14230C>T | |
| XM_017010377.1:c.-201-14230C>T | XP_016865866.1:n.-201-14230C>T | |
| XM_017010380.1:c.-71+30882C>T | XP_016865869.1:n.-71+30882C>T | |
| NM_001385568.1:c.-201-14230C>T | NP_001372497.1:n.-201-14230C>T |