Linked Data
ClinVar Variation Id:
329547
dbSNP Id:
rs148630935
ExAC:
19:45989011 G / A
gnomAD v2:
19-45989011-G-A
gnomAD v3:
19-45485753-G-A
gnomAD v4:
19-45485753-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45485753G>A , CM000681.2:g.45485753G>A | GRCh38 |
| NC_000019.9:g.45989011G>A , CM000681.1:g.45989011G>A | GRCh37 |
| NC_000019.8:g.50680851G>A | NCBI36 |
| NG_032157.1:g.16301C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245923.9:c.1593C>T MANE Select | ENSP00000245923.3:p.Ala531= | |
| ENST00000245923.8:c.1593C>T | ENSP00000245923.3:p.Ala531= | |
| ENST00000344680.8:c.1374C>T | ENSP00000345127.3:p.Ala458= | |
| ENST00000430715.6:c.573C>T | ENSP00000398178.1:p.Ala191= | |
| ENST00000587597.5:c.*137C>T | ENSP00000468144.1:n.*137C>T | |
| ENST00000588036.5:n.431C>T | ||
| ENST00000590526.5:c.771C>T | ENSP00000466619.1:p.Ala257= | |
| ENST00000590746.5:n.157C>T | ||
| ENST00000591286.5:c.*591C>T | ENSP00000467863.1:n.*591C>T | |
| ENST00000593129.1:n.469C>T | ||
| ENST00000593187.5:n.195C>T | ||
| NM_005619.4:c.1593C>T | NP_005610.1:p.Ala531= | |
| NM_206900.2:c.1374C>T | NP_996783.1:p.Ala458= | |
| NM_206901.2:c.573C>T | NP_996784.1:p.Ala191= | |
| NM_005619.5:c.1593C>T MANE Select | NP_005610.1:p.Ala531= | |
| NM_206900.3:c.1374C>T | NP_996783.1:p.Ala458= | |
| NM_206901.3:c.573C>T | NP_996784.1:p.Ala191= |