Linked Data
dbSNP Id:
rs1387308449
gnomAD v2:
13-110857720-T-A
gnomAD v3:
13-110205373-T-A
gnomAD v4:
13-110205373-T-A
MyVariant Identifiers:
chr13:g.110857720T>A (hg19)
chr13:g.110857720_110857721delinsAG (hg19)
chr13:g.110205373T>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110205373T>A , CM000675.2:g.110205373T>A | GRCh38 |
| NC_000013.10:g.110857720T>A , CM000675.1:g.110857720T>A | GRCh37 |
| NC_000013.9:g.109655721T>A | NCBI36 |
| NG_011544.2:g.106777A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375820.10:c.937A>T MANE Select | ENSP00000364979.4:p.Ile313Leu | |
| ENST00000543140.6:c.937A>T | ENSP00000443348.1:p.Ile313Leu | |
| ENST00000647632.1:n.570A>T | ||
| ENST00000647797.1:c.816A>T | ||
| ENST00000649738.1:n.1067A>T | ||
| ENST00000375820.8:c.937A>T | ENSP00000364979.4:p.Ile313Leu | |
| ENST00000543140.5:c.937A>T | ENSP00000443348.1:p.Ile313Leu | |
| NM_001303110.1:c.937A>T | NP_001290039.1:p.Ile313Leu | |
| NM_001845.5:c.937A>T | NP_001836.3:p.Ile313Leu | |
| XM_011521048.1:c.745A>T | XP_011519350.1:p.Ile249Leu | |
| XM_011521048.2:c.745A>T | XP_011519350.1:p.Ile249Leu | |
| NM_001845.6:c.937A>T MANE Select | NP_001836.3:p.Ile313Leu | |
| NM_001303110.2:c.937A>T | NP_001290039.1:p.Ile313Leu |