Linked Data
dbSNP Id:
rs770067952
ExAC:
22:20230016 C / T
gnomAD v2:
22-20230016-C-T
gnomAD v3:
22-20242493-C-T
gnomAD v4:
22-20242493-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20242493C>T , CM000684.2:g.20242493C>T | GRCh38 |
| NC_000022.10:g.20230016C>T , CM000684.1:g.20230016C>T | GRCh37 |
| NC_000022.9:g.18610016C>T | NCBI36 |
| NG_012176.1:g.30801G>A | |
| NG_012176.2:g.30801G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000043402.8:c.640G>A MANE Select | ENSP00000043402.7:p.Val214Met | |
| ENST00000043402.7:c.640G>A | ENSP00000043402.7:p.Val214Met | |
| ENST00000416372.5:c.699G>A | ||
| ENST00000425986.1:c.897G>A | ||
| NM_023004.5:c.640G>A | NP_075380.1:p.Val214Met | |
| NM_023004.6:c.640G>A MANE Select | NP_075380.1:p.Val214Met |