Linked Data
dbSNP Id:
rs369782458
ExAC:
4:79832936 C / A
gnomAD v2:
4-79832936-C-A
gnomAD v3:
4-78911782-C-A
gnomAD v4:
4-78911782-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78911782C>A , CM000666.2:g.78911782C>A | GRCh38 |
| NC_000004.11:g.79832936C>A , CM000666.1:g.79832936C>A | GRCh37 |
| NC_000004.10:g.80051960C>A | NCBI36 |
| NG_047162.1:g.140405C>A | |
| NG_053104.1:g.32657G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502613.3:c.3235C>A (BMP2K) MANE Select | ENSP00000424668.2:p.Leu1079Met | |
| ENST00000335016.9:c.3235C>A (BMP2K) | ENSP00000334836.5:p.Leu1079Met | |
| ENST00000342820.10:c.*782+3428G>T (PAQR3) | ENSP00000344203.6:n.*782+3428G>T | |
| ENST00000502613.1:c.2312C>A (BMP2K) | ||
| ENST00000511594.5:c.*407G>T (PAQR3) | ENSP00000425080.1:n.*407G>T | |
| ENST00000512760.5:c.*792+3428G>T (PAQR3) | ENSP00000426875.1:n.*792+3428G>T | |
| ENST00000628286.1:c.*2211C>A (BMP2K) | ENSP00000487317.1:n.*2211C>A | |
| NM_198892.1:c.3235C>A (BMP2K) | NP_942595.1:p.Leu1079Met | |
| XM_005263117.1:c.3124C>A (BMP2K) | XP_005263174.1:p.Leu1042Met | |
| XM_011532101.1:c.2995C>A (BMP2K) | XP_011530403.1:p.Leu999Met | |
| XR_938694.1:n.1118-5621G>T (PAQR3) | ||
| XM_017008381.1:c.2995C>A (BMP2K) | XP_016863870.1:p.Leu999Met | |
| XM_017008382.1:c.2347C>A (BMP2K) | XP_016863871.1:p.Leu783Met | |
| XR_938694.3:n.1098-5621G>T (PAQR3) | ||
| NM_198892.2:c.3235C>A (BMP2K) MANE Select | NP_942595.1:p.Leu1079Met |