Linked Data
gnomAD v2:
13-113803695-C-A
gnomAD v3:
13-113149381-C-A
gnomAD v4:
13-113149381-C-A
MyVariant Identifiers:
chr13:g.113803695C>A (hg19)
chr13:g.113803695_113803698delinsACCG (hg19)
chr13:g.113149381C>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113149381C>A , CM000675.2:g.113149381C>A | GRCh38 |
| NC_000013.10:g.113803695C>A , CM000675.1:g.113803695C>A | GRCh37 |
| NC_000013.9:g.112851696C>A | NCBI36 |
| NG_009258.1:g.31583C>A , LRG_548:g.31583C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375559.8:c.1331C>A MANE Select | ENSP00000364709.3:p.Ala444Asp | |
| ENST00000375551.7:c.*322C>A | ENSP00000364701.3:n.*322C>A | |
| ENST00000375559.7:c.1331C>A | ENSP00000364709.3:p.Ala444Asp | |
| ENST00000409306.5:c.*322C>A | ENSP00000387092.1:n.*322C>A | |
| NM_000504.3:c.1331C>A , LRG_548t1:c.1331C>A | NP_000495.1:p.Ala444Asp | |
| NM_001312674.1:c.1199C>A | NP_001299603.1:p.Ala400Asp | |
| NM_001312675.1:c.*322C>A | NP_001299604.1:n.*322C>A | |
| NM_000504.4:c.1331C>A MANE Select | NP_000495.1:p.Ala444Asp | |
| NM_001312674.2:c.1199C>A | NP_001299603.1:p.Ala400Asp | |
| NM_001312675.2:c.*322C>A | NP_001299604.1:n.*322C>A |