Linked Data
dbSNP Id:
rs189587233
gnomAD v2:
7-27203149-G-A
gnomAD v3:
7-27163530-G-A
gnomAD v4:
7-27163530-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.27163530G>A , CM000669.2:g.27163530G>A | GRCh38 |
| NC_000007.13:g.27203149G>A , CM000669.1:g.27203149G>A | GRCh37 |
| NC_000007.12:g.27169674G>A | NCBI36 |
| NG_029923.1:g.7001C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343483.7:c.*73C>T MANE Select | ENSP00000343619.6:n.*73C>T | |
| ENST00000343483.6:c.*73C>T | ENSP00000343619.6:n.*73C>T | |
| ENST00000396345.1:c.*398C>T | ENSP00000379634.1:n.*398C>T | |
| ENST00000487384.5:n.470C>T | ||
| ENST00000497089.1:n.463C>T | ||
| NM_152739.3:c.*73C>T | NP_689952.1:n.*73C>T | |
| NR_037940.1:n.1018C>T | ||
| NM_152739.4:c.*73C>T MANE Select | NP_689952.1:n.*73C>T |