Linked Data
dbSNP Id:
rs1182531
gnomAD v2:
20-58393002-G-T
gnomAD v3:
20-59817947-G-T
gnomAD v4:
20-59817947-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.59817947G>T , CM000682.2:g.59817947G>T | GRCh38 |
| NC_000020.10:g.58393002G>T , CM000682.1:g.58393002G>T | GRCh37 |
| NC_000020.9:g.57826397G>T | NCBI36 |
| NG_029537.1:g.245439G>T | |
| NG_029537.2:g.245439G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371015.6:c.1328+11753G>T MANE Select | ENSP00000360054.1:n.1328+11753G>T | |
| ENST00000355648.8:c.1205+11753G>T | ENSP00000347866.4:n.1205+11753G>T | |
| ENST00000359926.7:c.1319+11753G>T | ENSP00000353002.3:n.1319+11753G>T | |
| ENST00000361300.4:c.995+11753G>T | ENSP00000354555.4:n.995+11753G>T | |
| ENST00000371015.5:c.1328+11753G>T | ENSP00000360054.1:n.1328+11753G>T | |
| ENST00000395636.6:c.1205+11753G>T | ENSP00000378998.2:n.1205+11753G>T | |
| ENST00000541461.5:c.1205+11753G>T | ENSP00000442483.1:n.1205+11753G>T | |
| NM_001199505.1:c.1319+11753G>T | NP_001186434.1:n.1319+11753G>T | |
| NM_001199506.1:c.1205+11753G>T | NP_001186435.1:n.1205+11753G>T | |
| NM_001281507.1:c.1205+11753G>T | NP_001268436.1:n.1205+11753G>T | |
| NM_080672.4:c.1328+11753G>T | NP_542403.1:n.1328+11753G>T | |
| NM_183244.1:c.1205+11753G>T | NP_899067.1:n.1205+11753G>T | |
| NM_183246.1:c.995+11753G>T | NP_899069.1:n.995+11753G>T | |
| XM_011528525.1:c.1205+11753G>T | XP_011526827.1:n.1205+11753G>T | |
| XM_011528526.1:c.1118+11753G>T | XP_011526828.1:n.1118+11753G>T | |
| XM_011528525.2:c.1205+11753G>T | XP_011526827.1:n.1205+11753G>T | |
| XM_011528526.2:c.1118+11753G>T | XP_011526828.1:n.1118+11753G>T | |
| XM_017027626.2:c.1205+11753G>T | XP_016883115.1:n.1205+11753G>T | |
| XM_017027627.2:c.1205+11753G>T | XP_016883116.1:n.1205+11753G>T | |
| XM_017027628.1:c.1109+11753G>T | XP_016883117.1:n.1109+11753G>T | |
| XM_017027629.2:c.995+11753G>T | XP_016883118.1:n.995+11753G>T | |
| XM_017027630.1:c.995+11753G>T | XP_016883119.1:n.995+11753G>T | |
| XM_017027631.1:c.1205+11753G>T | XP_016883120.1:n.1205+11753G>T | |
| NM_080672.5:c.1328+11753G>T MANE Select | NP_542403.1:n.1328+11753G>T | |
| NM_001199506.2:c.1205+11753G>T | NP_001186435.1:n.1205+11753G>T | |
| NM_001281507.2:c.1205+11753G>T | NP_001268436.1:n.1205+11753G>T | |
| NM_183244.2:c.1205+11753G>T | NP_899067.1:n.1205+11753G>T | |
| NM_183246.2:c.995+11753G>T | NP_899069.1:n.995+11753G>T |