Linked Data
ClinVar Variation Id:
1601973
ClinVar RCV Id:
RCV002127639
dbSNP Id:
rs767370325
ExAC:
1:230846284 T / C
gnomAD v2:
1-230846284-T-C
gnomAD v3:
1-230710538-T-C
gnomAD v4:
1-230710538-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230710538T>C , CM000663.2:g.230710538T>C | GRCh38 |
| NC_000001.10:g.230846284T>C , CM000663.1:g.230846284T>C | GRCh37 |
| NC_000001.9:g.228912907T>C | NCBI36 |
| NG_008836.1:g.9053A>G | |
| NG_008836.2:g.9053A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366667.6:c.286A>G MANE Select | ENSP00000355627.5:p.Met96Val | |
| ENST00000679684.1:c.286A>G | ENSP00000505981.1:p.Met96Val | |
| ENST00000679738.1:c.286A>G | ENSP00000505063.1:p.Met96Val | |
| ENST00000679802.1:c.286A>G | ENSP00000505184.1:p.Met96Val | |
| ENST00000679854.1:n.797A>G | ||
| ENST00000679957.1:c.286A>G | ENSP00000506646.1:p.Met96Val | |
| ENST00000680041.1:c.286A>G | ENSP00000504866.1:p.Met96Val | |
| ENST00000680783.1:c.286A>G | ENSP00000506329.1:p.Met96Val | |
| ENST00000681269.1:c.286A>G | ENSP00000505985.1:p.Met96Val | |
| ENST00000681347.1:n.797A>G | ||
| ENST00000681514.1:c.286A>G | ENSP00000505963.1:p.Met96Val | |
| ENST00000681772.1:c.286A>G | ENSP00000505829.1:p.Met96Val | |
| ENST00000366667.4:c.313A>G | ENSP00000355627.4:p.Met105Val | |
| NM_000029.3:c.313A>G | NP_000020.1:p.Met105Val | |
| NM_000029.4:c.313A>G | NP_000020.1:p.Met105Val | |
| NM_001382817.3:c.286A>G | NP_001369746.2:p.Met96Val | |
| NM_001384479.1:c.286A>G MANE Select | NP_001371408.1:p.Met96Val |