Linked Data
dbSNP Id:
rs768276768
ExAC:
4:79832950 T / C
gnomAD v2:
4-79832950-T-C
gnomAD v4:
4-78911796-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78911796T>C , CM000666.2:g.78911796T>C | GRCh38 |
| NC_000004.11:g.79832950T>C , CM000666.1:g.79832950T>C | GRCh37 |
| NC_000004.10:g.80051974T>C | NCBI36 |
| NG_047162.1:g.140419T>C | |
| NG_053104.1:g.32643A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502613.3:c.3249T>C (BMP2K) MANE Select | ENSP00000424668.2:p.Pro1083= | |
| ENST00000335016.9:c.3249T>C (BMP2K) | ENSP00000334836.5:p.Pro1083= | |
| ENST00000342820.10:c.*782+3414A>G (PAQR3) | ENSP00000344203.6:n.*782+3414A>G | |
| ENST00000502613.1:c.2326T>C (BMP2K) | ||
| ENST00000511594.5:c.*393A>G (PAQR3) | ENSP00000425080.1:n.*393A>G | |
| ENST00000512760.5:c.*792+3414A>G (PAQR3) | ENSP00000426875.1:n.*792+3414A>G | |
| ENST00000628286.1:c.*2225T>C (BMP2K) | ENSP00000487317.1:n.*2225T>C | |
| NM_198892.1:c.3249T>C (BMP2K) | NP_942595.1:p.Pro1083= | |
| XM_005263117.1:c.3138T>C (BMP2K) | XP_005263174.1:p.Pro1046= | |
| XM_011532101.1:c.3009T>C (BMP2K) | XP_011530403.1:p.Pro1003= | |
| XR_938694.1:n.1118-5635A>G (PAQR3) | ||
| XM_017008381.1:c.3009T>C (BMP2K) | XP_016863870.1:p.Pro1003= | |
| XM_017008382.1:c.2361T>C (BMP2K) | XP_016863871.1:p.Pro787= | |
| XR_938694.3:n.1098-5635A>G (PAQR3) | ||
| NM_198892.2:c.3249T>C (BMP2K) MANE Select | NP_942595.1:p.Pro1083= |