Linked Data
dbSNP Id:
rs769857473
ExAC:
4:79832925 A / T
gnomAD v2:
4-79832925-A-T
gnomAD v4:
4-78911771-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78911771A>T , CM000666.2:g.78911771A>T | GRCh38 |
| NC_000004.11:g.79832925A>T , CM000666.1:g.79832925A>T | GRCh37 |
| NC_000004.10:g.80051949A>T | NCBI36 |
| NG_047162.1:g.140394A>T | |
| NG_053104.1:g.32668T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502613.3:c.3224A>T (BMP2K) MANE Select | ENSP00000424668.2:p.His1075Leu | |
| ENST00000335016.9:c.3224A>T (BMP2K) | ENSP00000334836.5:p.His1075Leu | |
| ENST00000342820.10:c.*782+3439T>A (PAQR3) | ENSP00000344203.6:n.*782+3439T>A | |
| ENST00000502613.1:c.2301A>T (BMP2K) | ||
| ENST00000511594.5:c.*418T>A (PAQR3) | ENSP00000425080.1:n.*418T>A | |
| ENST00000512760.5:c.*792+3439T>A (PAQR3) | ENSP00000426875.1:n.*792+3439T>A | |
| ENST00000628286.1:c.*2200A>T (BMP2K) | ENSP00000487317.1:n.*2200A>T | |
| NM_198892.1:c.3224A>T (BMP2K) | NP_942595.1:p.His1075Leu | |
| XM_005263117.1:c.3113A>T (BMP2K) | XP_005263174.1:p.His1038Leu | |
| XM_011532101.1:c.2984A>T (BMP2K) | XP_011530403.1:p.His995Leu | |
| XR_938694.1:n.1118-5610T>A (PAQR3) | ||
| XM_017008381.1:c.2984A>T (BMP2K) | XP_016863870.1:p.His995Leu | |
| XM_017008382.1:c.2336A>T (BMP2K) | XP_016863871.1:p.His779Leu | |
| XR_938694.3:n.1098-5610T>A (PAQR3) | ||
| NM_198892.2:c.3224A>T (BMP2K) MANE Select | NP_942595.1:p.His1075Leu |