Linked Data
dbSNP Id:
rs12507099
ExAC:
4:79832706 C / G
gnomAD v2:
4-79832706-C-G
gnomAD v3:
4-78911552-C-G
gnomAD v4:
4-78911552-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78911552C>G , CM000666.2:g.78911552C>G | GRCh38 |
| NC_000004.11:g.79832706C>G , CM000666.1:g.79832706C>G | GRCh37 |
| NC_000004.10:g.80051730C>G | NCBI36 |
| NG_047162.1:g.140175C>G | |
| NG_053104.1:g.32887G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000502613.3:c.3005C>G (BMP2K) MANE Select | ENSP00000424668.2:p.Thr1002Ser | |
| ENST00000335016.9:c.3005C>G (BMP2K) | ENSP00000334836.5:p.Thr1002Ser | |
| ENST00000342820.10:c.*782+3658G>C (PAQR3) | ENSP00000344203.6:n.*782+3658G>C | |
| ENST00000502613.1:c.2082C>G (BMP2K) | ||
| ENST00000511594.5:c.*637G>C (PAQR3) | ENSP00000425080.1:n.*637G>C | |
| ENST00000512760.5:c.*792+3658G>C (PAQR3) | ENSP00000426875.1:n.*792+3658G>C | |
| ENST00000628286.1:c.*1981C>G (BMP2K) | ENSP00000487317.1:n.*1981C>G | |
| NM_198892.1:c.3005C>G (BMP2K) | NP_942595.1:p.Thr1002Ser | |
| XM_005263117.1:c.2894C>G (BMP2K) | XP_005263174.1:p.Thr965Ser | |
| XM_011532101.1:c.2765C>G (BMP2K) | XP_011530403.1:p.Thr922Ser | |
| XR_938694.1:n.1118-5391G>C (PAQR3) | ||
| XM_017008381.1:c.2765C>G (BMP2K) | XP_016863870.1:p.Thr922Ser | |
| XM_017008382.1:c.2117C>G (BMP2K) | XP_016863871.1:p.Thr706Ser | |
| XR_938694.3:n.1098-5391G>C (PAQR3) | ||
| NM_198892.2:c.3005C>G (BMP2K) MANE Select | NP_942595.1:p.Thr1002Ser |