Linked Data
ClinVar Variation Id:
2978557
ClinVar RCV Id:
RCV003839203
dbSNP Id:
rs374434212
ExAC:
2:25384327 G / A
gnomAD v2:
2-25384327-G-A
gnomAD v3:
2-25161458-G-A
gnomAD v4:
2-25161458-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25161458G>A , CM000664.2:g.25161458G>A | GRCh38 |
| NC_000002.11:g.25384327G>A , CM000664.1:g.25384327G>A | GRCh37 |
| NC_000002.10:g.25237831G>A | NCBI36 |
| NG_008997.1:g.12233C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395826.7:c.427C>T MANE Select | ENSP00000379170.2:p.His143Tyr | |
| ENST00000264708.7:c.427C>T | ENSP00000264708.3:p.His143Tyr | |
| ENST00000380794.5:c.427C>T | ENSP00000370171.1:p.His143Tyr | |
| ENST00000395826.6:c.427C>T | ENSP00000379170.2:p.His143Tyr | |
| ENST00000405623.5:c.427C>T | ENSP00000384092.1:p.His143Tyr | |
| ENST00000449220.1:c.427C>T | ENSP00000387993.1:p.His143Tyr | |
| NM_000939.2:c.427C>T | NP_000930.1:p.His143Tyr | |
| NM_001035256.1:c.427C>T | NP_001030333.1:p.His143Tyr | |
| XM_011532917.1:c.427C>T | XP_011531219.1:p.His143Tyr | |
| NM_000939.3:c.427C>T | NP_000930.1:p.His143Tyr | |
| NM_001035256.2:c.427C>T | NP_001030333.1:p.His143Tyr | |
| NM_001319204.1:c.427C>T | NP_001306133.1:p.His143Tyr | |
| NM_001319205.1:c.427C>T | NP_001306134.1:p.His143Tyr | |
| NM_000939.4:c.427C>T MANE Select | NP_000930.1:p.His143Tyr | |
| NM_001319204.2:c.427C>T | NP_001306133.1:p.His143Tyr | |
| NM_001319205.2:c.427C>T | NP_001306134.1:p.His143Tyr | |
| NM_001035256.3:c.427C>T | NP_001030333.1:p.His143Tyr |