Linked Data
dbSNP Id:
rs749713814
ExAC:
22:20230103 G / A
gnomAD v2:
22-20230103-G-A
gnomAD v4:
22-20242580-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20242580G>A , CM000684.2:g.20242580G>A | GRCh38 |
| NC_000022.10:g.20230103G>A , CM000684.1:g.20230103G>A | GRCh37 |
| NC_000022.9:g.18610103G>A | NCBI36 |
| NG_012176.1:g.30714C>T | |
| NG_012176.2:g.30714C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000043402.8:c.553C>T MANE Select | ENSP00000043402.7:p.Leu185= | |
| ENST00000043402.7:c.553C>T | ENSP00000043402.7:p.Leu185= | |
| ENST00000416372.5:c.612C>T | ||
| ENST00000425986.1:c.810C>T | ||
| NM_023004.5:c.553C>T | NP_075380.1:p.Leu185= | |
| NM_023004.6:c.553C>T MANE Select | NP_075380.1:p.Leu185= |