Linked Data
dbSNP Id:
rs542810776
gnomAD v2:
2-25964902-C-T
gnomAD v3:
2-25742033-C-T
gnomAD v4:
2-25742033-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25742033C>T , CM000664.2:g.25742033C>T | GRCh38 |
| NC_000002.11:g.25964902C>T , CM000664.1:g.25964902C>T | GRCh37 |
| NC_000002.10:g.25818406C>T | NCBI36 |
| NG_052995.1:g.141484G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336112.9:c.4301G>A | ENSP00000337250.5:p.Arg1434Gln | |
| ENST00000435504.9:c.4304G>A MANE Select | ENSP00000391447.3:p.Arg1435Gln | |
| ENST00000336112.8:c.4220G>A | ENSP00000337250.4:p.Arg1407Gln | |
| ENST00000404843.5:c.2753G>A | ENSP00000383920.1:p.Arg918Gln | |
| ENST00000435504.8:c.4304G>A | ENSP00000391447.3:p.Arg1435Gln | |
| NM_018263.4:c.4304G>A | NP_060733.4:p.Arg1435Gln | |
| XM_006712039.2:c.3938G>A | XP_006712102.1:p.Arg1313Gln | |
| XM_006712040.1:c.3524G>A | XP_006712103.1:p.Arg1175Gln | |
| XM_011532950.1:c.4301G>A | XP_011531252.1:p.Arg1434Gln | |
| XM_011532951.1:c.4130G>A | XP_011531253.1:p.Arg1377Gln | |
| NM_018263.5:c.4304G>A | NP_060733.4:p.Arg1435Gln | |
| XM_006712039.3:c.3938G>A | XP_006712102.1:p.Arg1313Gln | |
| XM_006712040.2:c.3524G>A | XP_006712103.1:p.Arg1175Gln | |
| XM_011532950.3:c.4301G>A | XP_011531252.1:p.Arg1434Gln | |
| XM_011532951.2:c.4130G>A | XP_011531253.1:p.Arg1377Gln | |
| XM_017004430.1:c.3524G>A | XP_016859919.1:p.Arg1175Gln | |
| XM_024452974.1:c.4484G>A | XP_024308742.1:p.Arg1495Gln | |
| NM_001369346.1:c.4130G>A | NP_001356275.1:p.Arg1377Gln | |
| NM_001369347.1:c.3524G>A | NP_001356276.1:p.Arg1175Gln | |
| NM_018263.6:c.4304G>A MANE Select | NP_060733.4:p.Arg1435Gln |