Linked Data
dbSNP Id:
rs751389564
ExAC:
4:79832511 T / C
gnomAD v2:
4-79832511-T-C
gnomAD v4:
4-78911357-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78911357T>C , CM000666.2:g.78911357T>C | GRCh38 |
| NC_000004.11:g.79832511T>C , CM000666.1:g.79832511T>C | GRCh37 |
| NC_000004.10:g.80051535T>C | NCBI36 |
| NG_047162.1:g.139980T>C | |
| NG_053104.1:g.33082A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502613.3:c.2810T>C (BMP2K) MANE Select | ENSP00000424668.2:p.Phe937Ser | |
| ENST00000335016.9:c.2810T>C (BMP2K) | ENSP00000334836.5:p.Phe937Ser | |
| ENST00000342820.10:c.*782+3853A>G (PAQR3) | ENSP00000344203.6:n.*782+3853A>G | |
| ENST00000502613.1:c.1887T>C (BMP2K) | ||
| ENST00000511594.5:c.*832A>G (PAQR3) | ENSP00000425080.1:n.*832A>G | |
| ENST00000512760.5:c.*792+3853A>G (PAQR3) | ENSP00000426875.1:n.*792+3853A>G | |
| ENST00000628286.1:c.*1786T>C (BMP2K) | ENSP00000487317.1:n.*1786T>C | |
| NM_198892.1:c.2810T>C (BMP2K) | NP_942595.1:p.Phe937Ser | |
| XM_005263117.1:c.2699T>C (BMP2K) | XP_005263174.1:p.Phe900Ser | |
| XM_011532101.1:c.2570T>C (BMP2K) | XP_011530403.1:p.Phe857Ser | |
| XR_938694.1:n.1118-5196A>G (PAQR3) | ||
| XM_017008381.1:c.2570T>C (BMP2K) | XP_016863870.1:p.Phe857Ser | |
| XM_017008382.1:c.1922T>C (BMP2K) | XP_016863871.1:p.Phe641Ser | |
| XR_938694.3:n.1098-5196A>G (PAQR3) | ||
| NM_198892.2:c.2810T>C (BMP2K) MANE Select | NP_942595.1:p.Phe937Ser |