Linked Data
dbSNP Id:
rs761579635
ExAC:
4:79832622 G / T
gnomAD v2:
4-79832622-G-T
gnomAD v3:
4-78911468-G-T
gnomAD v4:
4-78911468-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78911468G>T , CM000666.2:g.78911468G>T | GRCh38 |
| NC_000004.11:g.79832622G>T , CM000666.1:g.79832622G>T | GRCh37 |
| NC_000004.10:g.80051646G>T | NCBI36 |
| NG_047162.1:g.140091G>T | |
| NG_053104.1:g.32971C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502613.3:c.2921G>T (BMP2K) MANE Select | ENSP00000424668.2:p.Ser974Ile | |
| ENST00000335016.9:c.2921G>T (BMP2K) | ENSP00000334836.5:p.Ser974Ile | |
| ENST00000342820.10:c.*782+3742C>A (PAQR3) | ENSP00000344203.6:n.*782+3742C>A | |
| ENST00000502613.1:c.1998G>T (BMP2K) | ||
| ENST00000511594.5:c.*721C>A (PAQR3) | ENSP00000425080.1:n.*721C>A | |
| ENST00000512760.5:c.*792+3742C>A (PAQR3) | ENSP00000426875.1:n.*792+3742C>A | |
| ENST00000628286.1:c.*1897G>T (BMP2K) | ENSP00000487317.1:n.*1897G>T | |
| NM_198892.1:c.2921G>T (BMP2K) | NP_942595.1:p.Ser974Ile | |
| XM_005263117.1:c.2810G>T (BMP2K) | XP_005263174.1:p.Ser937Ile | |
| XM_011532101.1:c.2681G>T (BMP2K) | XP_011530403.1:p.Ser894Ile | |
| XR_938694.1:n.1118-5307C>A (PAQR3) | ||
| XM_017008381.1:c.2681G>T (BMP2K) | XP_016863870.1:p.Ser894Ile | |
| XM_017008382.1:c.2033G>T (BMP2K) | XP_016863871.1:p.Ser678Ile | |
| XR_938694.3:n.1098-5307C>A (PAQR3) | ||
| NM_198892.2:c.2921G>T (BMP2K) MANE Select | NP_942595.1:p.Ser974Ile |