Linked Data
dbSNP Id:
rs200597976
ExAC:
3:128199918 A / G
gnomAD v2:
3-128199918-A-G
gnomAD v4:
3-128481075-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128481075A>G , CM000665.2:g.128481075A>G | GRCh38 |
| NC_000003.11:g.128199918A>G , CM000665.1:g.128199918A>G | GRCh37 |
| NC_000003.10:g.129682608A>G | NCBI36 |
| NG_029334.1:g.17113T>C , LRG_295:g.17113T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000487848.6:c.1387T>C MANE Plus Clinical | ENSP00000417074.1:p.Ser463Pro | |
| ENST00000696466.1:c.1669T>C | ENSP00000512647.1:p.Ser557Pro | |
| ENST00000696672.1:c.362T>C | ENSP00000512796.1:p.Leu121Pro | |
| ENST00000341105.7:c.1387T>C MANE Select | ENSP00000345681.2:p.Ser463Pro | |
| ENST00000341105.6:c.1387T>C | ENSP00000345681.2:p.Ser463Pro | |
| ENST00000430265.6:c.1345T>C | ENSP00000400259.2:p.Ser449Pro | |
| ENST00000487848.5:c.1387T>C | ENSP00000417074.1:p.Ser463Pro | |
| ENST00000489987.1:n.504T>C | ||
| NM_001145661.1:c.1387T>C , LRG_295t1:c.1387T>C | NP_001139133.1:p.Ser463Pro | |
| NM_001145662.1:c.1345T>C | NP_001139134.1:p.Ser449Pro | |
| NM_032638.4:c.1387T>C , LRG_295t2:c.1387T>C | NP_116027.2:p.Ser463Pro | |
| NM_001145661.2:c.1387T>C MANE Plus Clinical | NP_001139133.1:p.Ser463Pro | |
| NM_032638.5:c.1387T>C MANE Select | NP_116027.2:p.Ser463Pro |