Linked Data
dbSNP Id:
rs370160842
ExAC:
4:79832471 G / C
gnomAD v2:
4-79832471-G-C
gnomAD v3:
4-78911317-G-C
gnomAD v4:
4-78911317-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78911317G>C , CM000666.2:g.78911317G>C | GRCh38 |
| NC_000004.11:g.79832471G>C , CM000666.1:g.79832471G>C | GRCh37 |
| NC_000004.10:g.80051495G>C | NCBI36 |
| NG_047162.1:g.139940G>C | |
| NG_053104.1:g.33122C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502613.3:c.2770G>C (BMP2K) MANE Select | ENSP00000424668.2:p.Gly924Arg | |
| ENST00000335016.9:c.2770G>C (BMP2K) | ENSP00000334836.5:p.Gly924Arg | |
| ENST00000342820.10:c.*782+3893C>G (PAQR3) | ENSP00000344203.6:n.*782+3893C>G | |
| ENST00000502613.1:c.1847G>C (BMP2K) | ||
| ENST00000511594.5:c.*872C>G (PAQR3) | ENSP00000425080.1:n.*872C>G | |
| ENST00000512760.5:c.*792+3893C>G (PAQR3) | ENSP00000426875.1:n.*792+3893C>G | |
| ENST00000628286.1:c.*1746G>C (BMP2K) | ENSP00000487317.1:n.*1746G>C | |
| NM_198892.1:c.2770G>C (BMP2K) | NP_942595.1:p.Gly924Arg | |
| XM_005263117.1:c.2659G>C (BMP2K) | XP_005263174.1:p.Gly887Arg | |
| XM_011532101.1:c.2530G>C (BMP2K) | XP_011530403.1:p.Gly844Arg | |
| XR_938694.1:n.1118-5156C>G (PAQR3) | ||
| XM_017008381.1:c.2530G>C (BMP2K) | XP_016863870.1:p.Gly844Arg | |
| XM_017008382.1:c.1882G>C (BMP2K) | XP_016863871.1:p.Gly628Arg | |
| XR_938694.3:n.1098-5156C>G (PAQR3) | ||
| NM_198892.2:c.2770G>C (BMP2K) MANE Select | NP_942595.1:p.Gly924Arg |