Linked Data
dbSNP Id:
rs771974318
ExAC:
7:128488058 A / C
gnomAD v2:
7-128488058-A-C
gnomAD v4:
7-128848004-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128848004A>C , CM000669.2:g.128848004A>C | GRCh38 |
| NC_000007.13:g.128488058A>C , CM000669.1:g.128488058A>C | GRCh37 |
| NC_000007.12:g.128275294A>C | NCBI36 |
| NG_011807.1:g.22576A>C , LRG_870:g.22576A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.4516A>C MANE Select | ENSP00000327145.8:p.Thr1506Pro | |
| ENST00000325888.12:c.4516A>C | ENSP00000327145.8:p.Thr1506Pro | |
| ENST00000346177.6:c.4516A>C | ENSP00000344002.6:p.Thr1506Pro | |
| NM_001127487.1:c.4516A>C | NP_001120959.1:p.Thr1506Pro | |
| NM_001458.4:c.4516A>C , LRG_870t1:c.4516A>C | NP_001449.3:p.Thr1506Pro | |
| NM_001127487.2:c.4516A>C | NP_001120959.1:p.Thr1506Pro | |
| NM_001458.5:c.4516A>C MANE Select | NP_001449.3:p.Thr1506Pro |