Linked Data
dbSNP Id:
rs1450073600
gnomAD v2:
12-89897305-G-A
gnomAD v3:
12-89503528-G-A
gnomAD v4:
12-89503528-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.89503528G>A , CM000674.2:g.89503528G>A | GRCh38 |
| NC_000012.11:g.89897305G>A , CM000674.1:g.89897305G>A | GRCh37 |
| NC_000012.10:g.88421436G>A | NCBI36 |
| NG_041783.1:g.27735C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313546.8:c.101-6186C>T MANE Select | ENSP00000323302.3:n.101-6186C>T | |
| ENST00000313546.7:c.101-6186C>T | ENSP00000323302.3:n.101-6186C>T | |
| ENST00000393179.8:c.-118-11413C>T | ENSP00000376877.4:n.-118-11413C>T | |
| ENST00000539190.6:n.199-6186C>T | ||
| ENST00000546830.1:c.101-6186C>T | ENSP00000449256.1:n.101-6186C>T | |
| ENST00000547274.5:c.101-11413C>T | ENSP00000449648.1:n.101-11413C>T | |
| ENST00000547496.5:c.101-11413C>T | ENSP00000447437.1:n.101-11413C>T | |
| ENST00000548715.5:c.101-11413C>T | ENSP00000449945.1:n.101-11413C>T | |
| ENST00000549035.1:c.-26-6186C>T | ENSP00000447916.1:n.-26-6186C>T | |
| ENST00000549504.1:c.-118-11413C>T | ENSP00000450118.1:n.-118-11413C>T | |
| ENST00000552563.1:n.297-11413C>T | ||
| NM_001199777.1:c.-26-6186C>T | NP_001186706.1:n.-26-6186C>T | |
| NM_172240.2:c.101-6186C>T | NP_758440.1:n.101-6186C>T | |
| NR_037659.1:n.468-11413C>T | ||
| NR_037660.1:n.449-11413C>T | ||
| NM_172240.3:c.101-6186C>T MANE Select | NP_758440.1:n.101-6186C>T | |
| NM_001199777.2:c.-26-6186C>T | NP_001186706.1:n.-26-6186C>T | |
| NR_037659.2:n.253-11413C>T | ||
| NR_037660.2:n.312-11413C>T |