Linked Data
ClinVar Variation Id:
282961
dbSNP Id:
rs745809543
gnomAD v2:
7-42064873-C-G
gnomAD v4:
7-42025274-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.42025274C>G , CM000669.2:g.42025274C>G | GRCh38 |
| NC_000007.13:g.42064873C>G , CM000669.1:g.42064873C>G | GRCh37 |
| NC_000007.12:g.42031398C>G | NCBI36 |
| NG_008434.1:g.216746G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395925.8:c.1346G>C MANE Select | ENSP00000379258.3:p.Arg449Pro | |
| ENST00000677288.1:c.1172G>C | ENSP00000503986.1:p.Arg391Pro | |
| ENST00000677605.1:c.1346G>C | ENSP00000503743.1:p.Arg449Pro | |
| ENST00000678429.1:c.1346G>C | ENSP00000502957.1:p.Arg449Pro | |
| ENST00000395925.7:c.1346G>C | ENSP00000379258.3:p.Arg449Pro | |
| ENST00000479210.1:n.1323G>C | ||
| NM_000168.5:c.1346G>C | NP_000159.3:p.Arg449Pro | |
| XM_005249703.1:c.1346G>C | XP_005249760.1:p.Arg449Pro | |
| XM_005249704.2:c.1346G>C | XP_005249761.1:p.Arg449Pro | |
| XM_011515272.1:c.1346G>C | XP_011513574.1:p.Arg449Pro | |
| XM_011515273.1:c.1346G>C | XP_011513575.1:p.Arg449Pro | |
| XM_011515274.1:c.1169G>C | XP_011513576.1:p.Arg390Pro | |
| XM_011515274.2:c.1169G>C | XP_011513576.1:p.Arg390Pro | |
| XM_017011997.1:c.1343G>C | XP_016867486.1:p.Arg448Pro | |
| NM_000168.6:c.1346G>C MANE Select | NP_000159.3:p.Arg449Pro |