Linked Data
dbSNP Id:
rs1370518818
gnomAD v2:
1-22456347-G-A
gnomAD v3:
1-22129854-G-A
gnomAD v4:
1-22129854-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.22129854G>A , CM000663.2:g.22129854G>A | GRCh38 |
| NC_000001.10:g.22456347G>A , CM000663.1:g.22456347G>A | GRCh37 |
| NC_000001.9:g.22328934G>A | NCBI36 |
| NG_008974.1:g.18173C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290167.11:c.78-3C>T MANE Select | ENSP00000290167.5:n.78-3C>T | |
| ENST00000290167.10:c.78-3C>T | ENSP00000290167.5:n.78-3C>T | |
| ENST00000441048.1:c.-88-3C>T | ENSP00000388925.1:n.-88-3C>T | |
| NM_030761.4:c.78-3C>T | NP_110388.2:n.78-3C>T | |
| XM_011541597.1:c.144-3C>T | XP_011539899.1:n.144-3C>T | |
| XM_011541598.1:c.-88-3C>T | XP_011539900.1:n.-88-3C>T | |
| XM_011541599.1:c.144-3C>T | XP_011539901.1:n.144-3C>T | |
| XM_011541597.2:c.144-3C>T | XP_011539899.1:n.144-3C>T | |
| XM_011541598.2:c.-88-3C>T | XP_011539900.1:n.-88-3C>T | |
| NM_030761.5:c.78-3C>T MANE Select | NP_110388.2:n.78-3C>T |