Linked Data
gnomAD v4:
11-112086745-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112086745C>A , CM000673.2:g.112086745C>A | GRCh38 |
| NC_000011.9:g.111957469C>A , CM000673.1:g.111957469C>A | GRCh37 |
| NC_000011.8:g.111462679C>A | NCBI36 |
| NG_012337.2:g.4899C>A | |
| NG_033145.1:g.5054G>T | |
| NG_012337.3:g.4899C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504148.3:c.-22G>T MANE Select | ENSP00000422122.2:n.-22G>T | |
| ENST00000504148.2:c.-22G>T | ENSP00000422122.2:n.-22G>T | |
| ENST00000509359.6:c.-22G>T | ENSP00000421964.2:n.-22G>T | |
| ENST00000541231.1:c.24G>T | ENSP00000438455.1:p.Lys8Asn | |
| NM_012459.2:c.24G>T | NP_036591.2:p.Lys8Asn | |
| NR_028383.1:n.54G>T | ||
| NM_012459.3:c.-22G>T | NP_036591.3:n.-22G>T | |
| NR_028383.2:n.12G>T | ||
| NR_160400.1:n.12G>T | ||
| NM_012459.4:c.-22G>T MANE Select | NP_036591.3:n.-22G>T |