Linked Data
dbSNP Id:
rs770246625
ExAC:
4:4864442 C / A
gnomAD v2:
4-4864442-C-A
gnomAD v3:
4-4862715-C-A
gnomAD v4:
4-4862715-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4862715C>A , CM000666.2:g.4862715C>A | GRCh38 |
| NC_000004.11:g.4864442C>A , CM000666.1:g.4864442C>A | GRCh37 |
| NC_000004.10:g.4915343C>A | NCBI36 |
| NG_008121.1:g.8051C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382723.5:c.484C>A MANE Select | ENSP00000372170.4:p.Pro162Thr | |
| ENST00000382723.4:c.484C>A | ENSP00000372170.4:p.Pro162Thr | |
| ENST00000468421.1:n.196C>A | ||
| NM_002448.3:c.484C>A MANE Select | NP_002439.2:p.Pro162Thr |