Linked Data
ClinVar Variation Id:
932759
ClinVar RCV Id:
RCV001200699
dbSNP Id:
rs142765230
gnomAD v3:
17-7222687-T-G
gnomAD v4:
17-7222687-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222687T>G , CM000679.2:g.7222687T>G | GRCh38 |
| NC_000017.10:g.7126006T>G , CM000679.1:g.7126006T>G | GRCh37 |
| NC_000017.9:g.7066730T>G | NCBI36 |
| NG_007975.1:g.7854T>G | |
| NG_008391.2:g.2364A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.899T>G MANE Select | ENSP00000349297.5:p.Met300Arg | |
| ENST00000322910.9:c.*854T>G | ENSP00000325395.5:n.*854T>G | |
| ENST00000350303.9:c.833T>G | ENSP00000344152.5:p.Met278Arg | |
| ENST00000356839.9:c.899T>G | ENSP00000349297.5:p.Met300Arg | |
| ENST00000543245.6:c.968T>G | ENSP00000438689.2:p.Met323Arg | |
| ENST00000578824.5:n.48T>G | ||
| ENST00000581378.5:c.617T>G | ||
| ENST00000582379.1:n.283T>G | ||
| NM_000018.3:c.899T>G | NP_000009.1:p.Met300Arg | |
| NM_001033859.2:c.833T>G | NP_001029031.1:p.Met278Arg | |
| NM_001270447.1:c.968T>G | NP_001257376.1:p.Met323Arg | |
| NM_001270448.1:c.671T>G | NP_001257377.1:p.Met224Arg | |
| XM_006721516.2:c.899T>G | XP_006721579.2:p.Met300Arg | |
| XM_011523829.1:c.899T>G | XP_011522131.1:p.Met300Arg | |
| XM_011523830.1:c.899T>G | XP_011522132.1:p.Met300Arg | |
| XR_934021.1:n.1006T>G | ||
| XR_934022.1:n.1006T>G | ||
| XR_934023.1:n.1006T>G | ||
| XM_006721516.3:c.899T>G | XP_006721579.2:p.Met300Arg | |
| XM_011523829.2:c.899T>G | XP_011522131.1:p.Met300Arg | |
| XM_011523830.2:c.899T>G | XP_011522132.1:p.Met300Arg | |
| XM_024450741.1:c.899T>G | XP_024306509.1:p.Met300Arg | |
| XR_934021.2:n.958T>G | ||
| XR_934022.2:n.958T>G | ||
| XR_934023.2:n.958T>G | ||
| NM_000018.4:c.899T>G MANE Select | NP_000009.1:p.Met300Arg | |
| NM_001033859.3:c.833T>G | NP_001029031.1:p.Met278Arg | |
| NM_001270447.2:c.968T>G | NP_001257376.1:p.Met323Arg | |
| NM_001270448.2:c.671T>G | NP_001257377.1:p.Met224Arg |