Linked Data
dbSNP Id:
rs6013029
gnomAD v2:
20-36399580-G-T
gnomAD v3:
20-37771178-G-T
gnomAD v4:
20-37771178-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.37771178G>T , CM000682.2:g.37771178G>T | GRCh38 |
| NC_000020.10:g.36399580G>T , CM000682.1:g.36399580G>T | GRCh37 |
| NC_000020.9:g.35832994G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361383.11:c.750+3134G>T MANE Select | ENSP00000355050.6:n.750+3134G>T | |
| ENST00000361383.10:c.750+3134G>T | ENSP00000355050.6:n.750+3134G>T | |
| ENST00000373473.5:c.189+3134G>T | ENSP00000362572.1:n.189+3134G>T | |
| ENST00000405275.6:c.669+3134G>T | ENSP00000384355.2:n.669+3134G>T | |
| ENST00000473857.5:n.1834+3134G>T | ||
| ENST00000621317.4:c.765+3134G>T | ENSP00000478532.1:n.765+3134G>T | |
| ENST00000628103.2:c.669+3134G>T | ENSP00000487198.1:n.669+3134G>T | |
| NM_001281495.1:c.669+3134G>T | NP_001268424.1:n.669+3134G>T | |
| NM_030877.4:c.750+3134G>T | NP_110517.2:n.750+3134G>T | |
| XM_011528917.1:c.420+3134G>T | XP_011527219.1:n.420+3134G>T | |
| XM_011528917.2:c.420+3134G>T | XP_011527219.1:n.420+3134G>T | |
| XM_024451947.1:c.669+3134G>T | XP_024307715.1:n.669+3134G>T | |
| NM_030877.5:c.750+3134G>T MANE Select | NP_110517.2:n.750+3134G>T | |
| NM_001281495.2:c.669+3134G>T | NP_001268424.1:n.669+3134G>T |