Linked Data
dbSNP Id:
rs140704760
gnomAD v2:
12-112636474-G-A
gnomAD v3:
12-112198670-G-A
gnomAD v4:
12-112198670-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112198670G>A , CM000674.2:g.112198670G>A | GRCh38 |
| NC_000012.11:g.112636474G>A , CM000674.1:g.112636474G>A | GRCh37 |
| NC_000012.10:g.111120857G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682272.1:c.8567+1968C>T MANE Select | ENSP00000507687.1:n.8567+1968C>T | |
| ENST00000651701.1:c.1593+1968C>T | ||
| ENST00000377560.9:c.8561+1968C>T | ENSP00000366783.7:n.8561+1968C>T | |
| ENST00000548896.1:n.473+1968C>T | ||
| ENST00000550722.5:c.8165+1968C>T | ENSP00000449784.2:n.8165+1968C>T | |
| NM_001109662.3:c.8165+1968C>T | NP_001103132.3:n.8165+1968C>T | |
| NM_001109662.4:c.8597+1968C>T | NP_001103132.4:n.8597+1968C>T | |
| NM_001388303.1:c.8567+1968C>T MANE Select | NP_001375232.1:n.8567+1968C>T |