Linked Data
dbSNP Id:
rs761673831
ExAC:
4:79832512 T / G
gnomAD v2:
4-79832512-T-G
gnomAD v4:
4-78911358-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78911358T>G , CM000666.2:g.78911358T>G | GRCh38 |
| NC_000004.11:g.79832512T>G , CM000666.1:g.79832512T>G | GRCh37 |
| NC_000004.10:g.80051536T>G | NCBI36 |
| NG_047162.1:g.139981T>G | |
| NG_053104.1:g.33081A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502613.3:c.2811T>G (BMP2K) MANE Select | ENSP00000424668.2:p.Phe937Leu | |
| ENST00000335016.9:c.2811T>G (BMP2K) | ENSP00000334836.5:p.Phe937Leu | |
| ENST00000342820.10:c.*782+3852A>C (PAQR3) | ENSP00000344203.6:n.*782+3852A>C | |
| ENST00000502613.1:c.1888T>G (BMP2K) | ||
| ENST00000511594.5:c.*831A>C (PAQR3) | ENSP00000425080.1:n.*831A>C | |
| ENST00000512760.5:c.*792+3852A>C (PAQR3) | ENSP00000426875.1:n.*792+3852A>C | |
| ENST00000628286.1:c.*1787T>G (BMP2K) | ENSP00000487317.1:n.*1787T>G | |
| NM_198892.1:c.2811T>G (BMP2K) | NP_942595.1:p.Phe937Leu | |
| XM_005263117.1:c.2700T>G (BMP2K) | XP_005263174.1:p.Phe900Leu | |
| XM_011532101.1:c.2571T>G (BMP2K) | XP_011530403.1:p.Phe857Leu | |
| XR_938694.1:n.1118-5197A>C (PAQR3) | ||
| XM_017008381.1:c.2571T>G (BMP2K) | XP_016863870.1:p.Phe857Leu | |
| XM_017008382.1:c.1923T>G (BMP2K) | XP_016863871.1:p.Phe641Leu | |
| XR_938694.3:n.1098-5197A>C (PAQR3) | ||
| NM_198892.2:c.2811T>G (BMP2K) MANE Select | NP_942595.1:p.Phe937Leu |