Linked Data
dbSNP Id:
rs1200150329
gnomAD v2:
4-79832464-T-C
gnomAD v3:
4-78911310-T-C
gnomAD v4:
4-78911310-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78911310T>C , CM000666.2:g.78911310T>C | GRCh38 |
| NC_000004.11:g.79832464T>C , CM000666.1:g.79832464T>C | GRCh37 |
| NC_000004.10:g.80051488T>C | NCBI36 |
| NG_047162.1:g.139933T>C | |
| NG_053104.1:g.33129A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502613.3:c.2763T>C (BMP2K) MANE Select | ENSP00000424668.2:p.Thr921= | |
| ENST00000335016.9:c.2763T>C (BMP2K) | ENSP00000334836.5:p.Thr921= | |
| ENST00000342820.10:c.*782+3900A>G (PAQR3) | ENSP00000344203.6:n.*782+3900A>G | |
| ENST00000502613.1:c.1840T>C (BMP2K) | ||
| ENST00000511594.5:c.*879A>G (PAQR3) | ENSP00000425080.1:n.*879A>G | |
| ENST00000512760.5:c.*792+3900A>G (PAQR3) | ENSP00000426875.1:n.*792+3900A>G | |
| ENST00000628286.1:c.*1739T>C (BMP2K) | ENSP00000487317.1:n.*1739T>C | |
| NM_198892.1:c.2763T>C (BMP2K) | NP_942595.1:p.Thr921= | |
| XM_005263117.1:c.2652T>C (BMP2K) | XP_005263174.1:p.Thr884= | |
| XM_011532101.1:c.2523T>C (BMP2K) | XP_011530403.1:p.Thr841= | |
| XR_938694.1:n.1118-5149A>G (PAQR3) | ||
| XM_017008381.1:c.2523T>C (BMP2K) | XP_016863870.1:p.Thr841= | |
| XM_017008382.1:c.1875T>C (BMP2K) | XP_016863871.1:p.Thr625= | |
| XR_938694.3:n.1098-5149A>G (PAQR3) | ||
| NM_198892.2:c.2763T>C (BMP2K) MANE Select | NP_942595.1:p.Thr921= |