Linked Data
dbSNP Id:
rs546660278
gnomAD v2:
19-694945-G-C
gnomAD v3:
19-694945-G-C
gnomAD v4:
19-694945-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.694945G>C , CM000681.2:g.694945G>C | GRCh38 |
| NC_000019.9:g.694945G>C , CM000681.1:g.694945G>C | GRCh37 |
| NC_000019.8:g.645945G>C | NCBI36 |
| NG_051189.1:g.5587C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329267.9:c.102C>G MANE Select | ENSP00000327386.6:p.Ile34Met | |
| ENST00000329267.8:c.102C>G | ENSP00000327386.6:p.Ile34Met | |
| ENST00000613411.4:c.105C>G | ENSP00000482358.1:p.Ile35Met | |
| NM_001308209.1:c.102C>G | NP_001295138.1:p.Ile34Met | |
| NM_214710.3:c.105C>G | NP_999875.1:p.Ile35Met | |
| NM_214710.4:c.105C>G | NP_999875.1:p.Ile35Met | |
| NM_001308209.2:c.102C>G MANE Select | NP_001295138.2:p.Ile34Met | |
| NM_214710.5:c.105C>G | NP_999875.2:p.Ile35Met |