Linked Data
dbSNP Id:
rs1181260023
gnomAD v2:
13-110857654-G-A
gnomAD v3:
13-110205307-G-A
gnomAD v4:
13-110205307-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110205307G>A , CM000675.2:g.110205307G>A | GRCh38 |
| NC_000013.10:g.110857654G>A , CM000675.1:g.110857654G>A | GRCh37 |
| NC_000013.9:g.109655655G>A | NCBI36 |
| NG_011544.2:g.106843C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375820.10:c.957+46C>T MANE Select | ENSP00000364979.4:n.957+46C>T | |
| ENST00000543140.6:c.957+46C>T | ENSP00000443348.1:n.957+46C>T | |
| ENST00000647632.1:n.636C>T | ||
| ENST00000647797.1:c.836+46C>T | ||
| ENST00000649738.1:n.1087+46C>T | ||
| ENST00000375820.8:c.957+46C>T | ENSP00000364979.4:n.957+46C>T | |
| ENST00000543140.5:c.957+46C>T | ENSP00000443348.1:n.957+46C>T | |
| NM_001303110.1:c.957+46C>T | NP_001290039.1:n.957+46C>T | |
| NM_001845.5:c.957+46C>T | NP_001836.3:n.957+46C>T | |
| XM_011521048.1:c.765+46C>T | XP_011519350.1:n.765+46C>T | |
| XM_011521048.2:c.765+46C>T | XP_011519350.1:n.765+46C>T | |
| NM_001845.6:c.957+46C>T MANE Select | NP_001836.3:n.957+46C>T | |
| NM_001303110.2:c.957+46C>T | NP_001290039.1:n.957+46C>T |