Linked Data
dbSNP Id:
rs758054130
ExAC:
19:35775812 C / T
gnomAD v2:
19-35775812-C-T
gnomAD v3:
19-35284909-C-T
gnomAD v4:
19-35284909-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35284909C>T , CM000681.2:g.35284909C>T | GRCh38 |
| NC_000019.9:g.35775812C>T , CM000681.1:g.35775812C>T | GRCh37 |
| NC_000019.8:g.40467652C>T | NCBI36 |
| NG_011563.1:g.7403C>T | |
| NG_011563.2:g.7403C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000222304.5:c.151-29C>T MANE Select | ENSP00000222304.2:n.151-29C>T | |
| ENST00000222304.3:c.151-29C>T | ENSP00000222304.2:n.151-29C>T | |
| ENST00000593580.1:n.2393C>T | ||
| ENST00000598398.5:c.151-29C>T | ENSP00000471894.1:n.151-29C>T | |
| NM_021175.2:c.151-29C>T | NP_066998.1:n.151-29C>T | |
| NM_021175.3:c.151-29C>T | NP_066998.1:n.151-29C>T | |
| NM_021175.4:c.151-29C>T MANE Select | NP_066998.1:n.151-29C>T |