Linked Data
ClinVar Variation Id:
4309
dbSNP Id:
rs121908300
ExAC:
1:155207935 A / G
gnomAD v2:
1-155207935-A-G
gnomAD v4:
1-155238144-A-G
PubMed:
PMID:8516282
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155238144A>G , CM000663.2:g.155238144A>G | GRCh38 |
| NC_000001.10:g.155207935A>G , CM000663.1:g.155207935A>G | GRCh37 |
| NC_000001.9:g.153474559A>G | NCBI36 |
| NG_009783.1:g.11554T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368373.8:c.751T>C MANE Select | ENSP00000357357.3:p.Tyr251His | |
| ENST00000327247.9:c.751T>C | ENSP00000314508.5:p.Tyr251His | |
| ENST00000368373.7:c.751T>C | ENSP00000357357.3:p.Tyr251His | |
| ENST00000427500.7:c.604T>C | ENSP00000402577.2:p.Tyr202His | |
| ENST00000428024.3:c.490T>C | ENSP00000397986.2:p.Tyr164His | |
| ENST00000460156.1:n.538T>C | ||
| ENST00000484489.5:n.339+1829T>C | ||
| ENST00000491081.5:n.356T>C | ||
| ENST00000497670.5:n.374T>C | ||
| NM_000157.3:c.751T>C | NP_000148.2:p.Tyr251His | |
| NM_001005741.2:c.751T>C | NP_001005741.1:p.Tyr251His | |
| NM_001005742.2:c.751T>C | NP_001005742.1:p.Tyr251His | |
| NM_001171811.1:c.490T>C | NP_001165282.1:p.Tyr164His | |
| NM_001171812.1:c.604T>C | NP_001165283.1:p.Tyr202His | |
| XM_006711270.1:c.751T>C | XP_006711333.1:p.Tyr251His | |
| XM_011509407.1:c.751T>C | XP_011507709.1:p.Tyr251His | |
| NM_000157.4:c.751T>C MANE Select | NP_000148.2:p.Tyr251His | |
| NM_001005741.3:c.751T>C | NP_001005741.1:p.Tyr251His | |
| NM_001005742.3:c.751T>C | NP_001005742.1:p.Tyr251His | |
| NM_001171811.2:c.490T>C | NP_001165282.1:p.Tyr164His | |
| NM_001171812.2:c.604T>C | NP_001165283.1:p.Tyr202His |