Linked Data
dbSNP Id:
rs556730271
ExAC:
4:79832979 C / T
gnomAD v2:
4-79832979-C-T
gnomAD v3:
4-78911825-C-T
gnomAD v4:
4-78911825-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78911825C>T , CM000666.2:g.78911825C>T | GRCh38 |
| NC_000004.11:g.79832979C>T , CM000666.1:g.79832979C>T | GRCh37 |
| NC_000004.10:g.80052003C>T | NCBI36 |
| NG_047162.1:g.140448C>T | |
| NG_053104.1:g.32614G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502613.3:c.3278C>T (BMP2K) MANE Select | ENSP00000424668.2:p.Ala1093Val | |
| ENST00000335016.9:c.3278C>T (BMP2K) | ENSP00000334836.5:p.Ala1093Val | |
| ENST00000342820.10:c.*782+3385G>A (PAQR3) | ENSP00000344203.6:n.*782+3385G>A | |
| ENST00000502613.1:c.2355C>T (BMP2K) | ||
| ENST00000511594.5:c.*364G>A (PAQR3) | ENSP00000425080.1:n.*364G>A | |
| ENST00000512760.5:c.*792+3385G>A (PAQR3) | ENSP00000426875.1:n.*792+3385G>A | |
| ENST00000628286.1:c.*2254C>T (BMP2K) | ENSP00000487317.1:n.*2254C>T | |
| NM_198892.1:c.3278C>T (BMP2K) | NP_942595.1:p.Ala1093Val | |
| XM_005263117.1:c.3167C>T (BMP2K) | XP_005263174.1:p.Ala1056Val | |
| XM_011532101.1:c.3038C>T (BMP2K) | XP_011530403.1:p.Ala1013Val | |
| XR_938694.1:n.1118-5664G>A (PAQR3) | ||
| XM_017008381.1:c.3038C>T (BMP2K) | XP_016863870.1:p.Ala1013Val | |
| XM_017008382.1:c.2390C>T (BMP2K) | XP_016863871.1:p.Ala797Val | |
| XR_938694.3:n.1098-5664G>A (PAQR3) | ||
| NM_198892.2:c.3278C>T (BMP2K) MANE Select | NP_942595.1:p.Ala1093Val |