Linked Data
dbSNP Id:
rs374928595
ExAC:
6:139694448 T / C
gnomAD v2:
6-139694448-T-C
gnomAD v3:
6-139373311-T-C
gnomAD v4:
6-139373311-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.139373311T>C , CM000668.2:g.139373311T>C | GRCh38 |
| NC_000006.11:g.139694448T>C , CM000668.1:g.139694448T>C | GRCh37 |
| NC_000006.10:g.139736141T>C | NCBI36 |
| NG_016169.1:g.6338A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367651.4:c.634A>G MANE Select | ENSP00000356623.2:p.Met212Val | |
| ENST00000367651.3:c.634A>G | ENSP00000356623.2:p.Met212Val | |
| ENST00000536159.2:c.634A>G | ENSP00000442831.1:p.Met212Val | |
| ENST00000537332.2:c.649A>G | ENSP00000444198.2:p.Met217Val | |
| ENST00000618718.1:c.477-14A>G | ENSP00000479918.1:n.477-14A>G | |
| NM_001168388.2:c.634A>G | NP_001161860.1:p.Met212Val | |
| NM_001168389.2:c.649A>G | NP_001161861.2:p.Met217Val | |
| NM_006079.4:c.634A>G | NP_006070.2:p.Met212Val | |
| NM_006079.5:c.634A>G MANE Select | NP_006070.2:p.Met212Val | |
| NM_001168388.3:c.634A>G | NP_001161860.1:p.Met212Val | |
| NM_001168389.3:c.649A>G | NP_001161861.2:p.Met217Val |