Linked Data
ClinVar Variation Id:
430062
dbSNP Id:
rs376808313
ExAC:
10:50828566 T / G
gnomAD v2:
10-50828566-T-G
gnomAD v3:
10-49620520-T-G
gnomAD v4:
10-49620520-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49620520T>G , CM000672.2:g.49620520T>G | GRCh38 |
| NC_000010.10:g.50828566T>G , CM000672.1:g.50828566T>G | GRCh37 |
| NC_000010.9:g.50498572T>G | NCBI36 |
| NG_011797.1:g.16426T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337653.7:c.605T>G MANE Select | ENSP00000337103.2:p.Met202Arg | |
| ENST00000337653.6:c.605T>G | ENSP00000337103.2:p.Met202Arg | |
| ENST00000339797.5:c.251T>G | ENSP00000343486.1:p.Met84Arg | |
| ENST00000351556.7:c.251T>G | ENSP00000345878.3:p.Met84Arg | |
| ENST00000395559.6:c.251T>G | ENSP00000378926.2:p.Met84Arg | |
| ENST00000395562.2:c.359T>G | ENSP00000378929.2:p.Met120Arg | |
| ENST00000460699.5:n.586T>G | ||
| ENST00000466590.6:c.*336T>G | ENSP00000473443.1:n.*336T>G | |
| NM_001142929.1:c.251T>G | NP_001136401.1:p.Met84Arg | |
| NM_001142933.1:c.359T>G | NP_001136405.1:p.Met120Arg | |
| NM_001142934.1:c.251T>G | NP_001136406.1:p.Met84Arg | |
| NM_020549.4:c.605T>G | NP_065574.3:p.Met202Arg | |
| NM_020984.3:c.251T>G | NP_066264.3:p.Met84Arg | |
| NM_020985.3:c.251T>G | NP_066265.3:p.Met84Arg | |
| NM_020986.3:c.251T>G | NP_066266.3:p.Met84Arg | |
| NM_001142929.2:c.251T>G | NP_001136401.2:p.Met84Arg | |
| NM_001142933.2:c.359T>G | NP_001136405.2:p.Met120Arg | |
| NM_001142934.2:c.251T>G | NP_001136406.2:p.Met84Arg | |
| NM_020549.5:c.605T>G MANE Select | NP_065574.4:p.Met202Arg | |
| NM_020984.4:c.251T>G | NP_066264.4:p.Met84Arg | |
| NM_020985.4:c.251T>G | NP_066265.4:p.Met84Arg | |
| NM_020986.4:c.251T>G | NP_066266.4:p.Met84Arg |