Linked Data
dbSNP Id:
rs1404021144
gnomAD v2:
10-131565201-A-C
gnomAD v3:
10-129766937-A-C
gnomAD v4:
10-129766937-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.129766937A>C , CM000672.2:g.129766937A>C | GRCh38 |
| NC_000010.10:g.131565201A>C , CM000672.1:g.131565201A>C | GRCh37 |
| NC_000010.9:g.131455191A>C | NCBI36 |
| NG_052673.1:g.304754A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306010.8:c.657A>C | ENSP00000302111.7:p.Ala219= | |
| ENST00000651593.1:c.564A>C MANE Select | ENSP00000498729.1:p.Ala188= | |
| ENST00000306010.7:c.657A>C | ENSP00000302111.7:p.Ala219= | |
| NM_002412.3:c.657A>C | NP_002403.2:p.Ala219= | |
| NM_002412.4:c.657A>C | NP_002403.2:p.Ala219= | |
| XM_005252682.2:c.564A>C | XP_005252739.1:p.Ala188= | |
| XM_006717863.2:c.387A>C | XP_006717926.1:p.Ala129= | |
| XM_011539817.1:c.573A>C | XP_011538119.1:p.Ala191= | |
| NM_002412.5:c.564A>C MANE Select | NP_002403.3:p.Ala188= | |
| XM_017016275.1:c.387A>C | XP_016871764.1:p.Ala129= |