Linked Data
dbSNP Id:
rs778109111
ExAC:
17:61555330 C / A
gnomAD v2:
17-61555330-C-A
gnomAD v4:
17-63477969-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63477969C>A , CM000679.2:g.63477969C>A | GRCh38 |
| NC_000017.10:g.61555330C>A , CM000679.1:g.61555330C>A | GRCh37 |
| NC_000017.9:g.58909062C>A | NCBI36 |
| NG_011648.1:g.5897C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.288C>A MANE Select | ENSP00000290866.4:p.Ala96= | |
| ENST00000290866.9:c.288C>A | ENSP00000290866.4:p.Ala96= | |
| ENST00000428043.5:c.288C>A | ENSP00000397593.2:p.Ala96= | |
| ENST00000579462.1:n.313C>A | ||
| ENST00000580318.1:n.477C>A | ||
| ENST00000582627.1:c.288C>A | ENSP00000462280.1:p.Ala96= | |
| ENST00000582678.5:c.288C>A | ENSP00000462995.1:p.Ala96= | |
| ENST00000583336.5:n.322C>A | ||
| ENST00000584529.5:n.322C>A | ||
| NM_000789.3:c.288C>A | NP_000780.1:p.Ala96= | |
| XM_005257110.1:c.-168C>A | XP_005257167.1:n.-168C>A | |
| NM_000789.4:c.288C>A MANE Select | NP_000780.1:p.Ala96= | |
| NM_001382700.1:c.53C>A | NP_001369629.1:p.Pro18His | |
| NM_001382701.1:c.-327C>A | NP_001369630.1:n.-327C>A |