Linked Data
ClinVar Variation Id:
344221
dbSNP Id:
rs1515442
ExAC:
3:172835125 T / C
gnomAD v2:
3-172835125-T-C
gnomAD v3:
3-173117335-T-C
gnomAD v4:
3-173117335-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.173117335T>C , CM000665.2:g.173117335T>C | GRCh38 |
| NC_000003.11:g.172835125T>C , CM000665.1:g.172835125T>C | GRCh37 |
| NC_000003.10:g.174317819T>C | NCBI36 |
| NG_021422.1:g.28934A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351008.4:c.397A>G MANE Select | ENSP00000341765.3:p.Met133Val | |
| ENST00000351008.3:c.397A>G | ENSP00000341765.3:p.Met133Val | |
| NM_031955.5:c.397A>G | NP_114161.3:p.Met133Val | |
| XM_006713778.2:c.397A>G | XP_006713841.1:p.Met133Val | |
| XM_011513222.1:c.397A>G | XP_011511524.1:p.Met133Val | |
| XR_924722.1:n.133+2983T>C | ||
| XR_924723.1:n.134-984T>C | ||
| XM_006713778.3:c.397A>G | XP_006713841.1:p.Met133Val | |
| XM_017007308.2:c.397A>G | XP_016862797.1:p.Met133Val | |
| XR_001741021.1:n.65+2983T>C | ||
| NM_031955.6:c.397A>G MANE Select | NP_114161.3:p.Met133Val |