Linked Data
dbSNP Id:
rs1417509355
gnomAD v2:
2-21260937-A-G
gnomAD v3:
2-21038065-A-G
gnomAD v4:
2-21038065-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21038065A>G , CM000664.2:g.21038065A>G | GRCh38 |
| NC_000002.11:g.21260937A>G , CM000664.1:g.21260937A>G | GRCh37 |
| NC_000002.10:g.21114442A>G | NCBI36 |
| NG_011793.1:g.11009T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000673739.2:c.384-810T>C | ENSP00000501110.2:n.384-810T>C | |
| ENST00000673882.2:c.384-810T>C | ENSP00000501253.2:n.384-810T>C | |
| ENST00000673739.1:c.252-810T>C | ENSP00000501110.1:n.252-810T>C | |
| ENST00000673882.1:c.252-810T>C | ENSP00000501253.1:n.252-810T>C | |
| ENST00000233242.5:c.430T>C MANE Select | ENSP00000233242.1:p.Tyr144His | |
| ENST00000399256.4:c.430T>C | ENSP00000382200.4:p.Tyr144His | |
| ENST00000616098.4:c.430T>C | ENSP00000477990.1:p.Tyr144His | |
| NM_000384.2:c.430T>C | NP_000375.2:p.Tyr144His | |
| XM_011532809.1:c.430T>C | XP_011531111.1:p.Tyr144His | |
| NM_000384.3:c.430T>C MANE Select | NP_000375.3:p.Tyr144His |