Linked Data
dbSNP Id:
rs375571554
ExAC:
22:20230211 G / T
gnomAD v2:
22-20230211-G-T
gnomAD v3:
22-20242688-G-T
gnomAD v4:
22-20242688-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20242688G>T , CM000684.2:g.20242688G>T | GRCh38 |
| NC_000022.10:g.20230211G>T , CM000684.1:g.20230211G>T | GRCh37 |
| NC_000022.9:g.18610211G>T | NCBI36 |
| NG_012176.1:g.30606C>A | |
| NG_012176.2:g.30606C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000043402.8:c.445C>A MANE Select | ENSP00000043402.7:p.Leu149Met | |
| ENST00000043402.7:c.445C>A | ENSP00000043402.7:p.Leu149Met | |
| ENST00000416372.5:c.504C>A | ||
| ENST00000425986.1:c.702C>A | ||
| ENST00000469601.1:n.581C>A | ||
| NM_023004.5:c.445C>A | NP_075380.1:p.Leu149Met | |
| NM_023004.6:c.445C>A MANE Select | NP_075380.1:p.Leu149Met |