Linked Data
dbSNP Id:
rs2238152
gnomAD v2:
12-112214459-G-T
gnomAD v3:
12-111776655-G-T
gnomAD v4:
12-111776655-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.111776655G>T , CM000674.2:g.111776655G>T | GRCh38 |
| NC_000012.11:g.112214459G>T , CM000674.1:g.112214459G>T | GRCh37 |
| NC_000012.10:g.110698842G>T | NCBI36 |
| NG_012250.1:g.15114G>T | |
| NG_012250.2:g.14769G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261733.7:c.115-5263G>T MANE Select | ENSP00000261733.2:n.115-5263G>T | |
| ENST00000546840.3:c.105-5263G>T | ||
| ENST00000261733.6:c.115-5263G>T | ENSP00000261733.2:n.115-5263G>T | |
| ENST00000416293.7:c.115-5263G>T | ENSP00000403349.3:n.115-5263G>T | |
| ENST00000546840.2:c.100-5263G>T | ENSP00000450353.3:n.100-5263G>T | |
| ENST00000548536.1:c.230+935G>T | ENSP00000448179.1:n.230+935G>T | |
| NM_000690.3:c.115-5263G>T | NP_000681.2:n.115-5263G>T | |
| NM_001204889.1:c.115-5263G>T | NP_001191818.1:n.115-5263G>T | |
| NM_000690.4:c.115-5263G>T MANE Select | NP_000681.2:n.115-5263G>T | |
| NM_001204889.2:c.115-5263G>T | NP_001191818.1:n.115-5263G>T |