Linked Data
dbSNP Id:
rs2856329
gnomAD v2:
12-11942720-C-T
gnomAD v3:
12-11789786-C-T
gnomAD v4:
12-11789786-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.11789786C>T , CM000674.2:g.11789786C>T | GRCh38 |
| NC_000012.11:g.11942720C>T , CM000674.1:g.11942720C>T | GRCh37 |
| NC_000012.10:g.11833987C>T | NCBI36 |
| NG_011443.1:g.144933C>T , LRG_609:g.144933C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396373.9:c.163+37207C>T MANE Select | ENSP00000379658.3:n.163+37207C>T | |
| ENST00000396373.8:c.163+37207C>T | ENSP00000379658.3:n.163+37207C>T | |
| ENST00000541426.1:n.348-35858C>T | ||
| ENST00000545027.1:c.79+37207C>T | ENSP00000441463.1:n.79+37207C>T | |
| NM_001987.4:c.163+37207C>T , LRG_609t1:c.163+37207C>T | NP_001978.1:n.163+37207C>T | |
| XM_011520607.1:c.160+37207C>T | XP_011518909.1:n.160+37207C>T | |
| XM_011520608.1:c.136+37207C>T | XP_011518910.1:n.136+37207C>T | |
| XM_011520611.1:c.-101-49354C>T | XP_011518913.1:n.-101-49354C>T | |
| XM_011520607.2:c.160+37207C>T | XP_011518909.1:n.160+37207C>T | |
| XM_011520608.2:c.136+37207C>T | XP_011518910.1:n.136+37207C>T | |
| XM_011520611.2:c.-101-49354C>T | XP_011518913.1:n.-101-49354C>T | |
| XM_017018990.1:c.163+37207C>T | XP_016874479.1:n.163+37207C>T | |
| XM_017018991.1:c.-1497-35858C>T | XP_016874480.1:n.-1497-35858C>T | |
| NM_001987.5:c.163+37207C>T MANE Select | NP_001978.1:n.163+37207C>T |