Linked Data
ClinVar Variation Id:
391494
dbSNP Id:
rs180718181
ExAC:
6:75852997 A / G
gnomAD v2:
6-75852997-A-G
gnomAD v3:
6-75143281-A-G
gnomAD v4:
6-75143281-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75143281A>G , CM000668.2:g.75143281A>G | GRCh38 |
| NC_000006.11:g.75852997A>G , CM000668.1:g.75852997A>G | GRCh37 |
| NC_000006.10:g.75909717A>G | NCBI36 |
| NG_042181.1:g.67627T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322507.13:c.4798T>C MANE Select | ENSP00000325146.8:p.Tyr1600His | |
| ENST00000322507.12:c.4798T>C | ENSP00000325146.8:p.Tyr1600His | |
| ENST00000345356.10:c.1306T>C | ENSP00000305147.9:p.Tyr436His | |
| ENST00000416123.6:c.4798T>C | ENSP00000412864.2:p.Tyr1600His | |
| ENST00000419671.1:c.1022T>C | ||
| ENST00000474564.1:n.422T>C | ||
| ENST00000483888.6:c.4798T>C | ENSP00000421216.1:p.Tyr1600His | |
| ENST00000615798.4:c.1231T>C | ENSP00000483232.1:p.Tyr411His | |
| NM_004370.5:c.4798T>C | NP_004361.3:p.Tyr1600His | |
| NM_080645.2:c.1306T>C | NP_542376.2:p.Tyr436His | |
| XM_011535434.1:c.4798T>C | XP_011533736.1:p.Tyr1600His | |
| XM_011535435.1:c.4525T>C | XP_011533737.1:p.Tyr1509His | |
| XM_011535436.1:c.1306T>C | XP_011533738.1:p.Tyr436His | |
| XM_011535436.2:c.1306T>C | XP_011533738.1:p.Tyr436His | |
| XM_017010252.2:c.4762T>C | XP_016865741.1:p.Tyr1588His | |
| NM_004370.6:c.4798T>C MANE Select | NP_004361.3:p.Tyr1600His | |
| NM_080645.3:c.1306T>C | NP_542376.2:p.Tyr436His |