Linked Data
dbSNP Id:
rs1180932946
gnomAD v2:
12-58157950-A-C
gnomAD v3:
12-57764167-A-C
gnomAD v4:
12-57764167-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764167A>C , CM000674.2:g.57764167A>C | GRCh38 |
| NC_000012.11:g.58157950A>C , CM000674.1:g.58157950A>C | GRCh37 |
| NC_000012.10:g.56444217A>C | NCBI36 |
| NG_007076.1:g.8027T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1227T>G | ENSP00000518840.1:p.Pro409= | |
| ENST00000713545.1:c.*151T>G | ENSP00000518841.1:n.*151T>G | |
| ENST00000228606.9:c.1146T>G MANE Select | ENSP00000228606.4:p.Pro382= | |
| ENST00000228606.8:c.1146T>G | ENSP00000228606.4:p.Pro382= | |
| ENST00000546567.5:c.441T>G | ENSP00000449472.1:p.Pro147= | |
| ENST00000547344.5:n.1285T>G | ||
| NM_000785.3:c.1146T>G | NP_000776.1:p.Pro382= | |
| NM_000785.4:c.1146T>G MANE Select | NP_000776.1:p.Pro382= |