Linked Data
dbSNP Id:
rs782768431
ExAC:
19:8645772 G / T
gnomAD v2:
19-8645772-G-T
gnomAD v3:
19-8580888-G-T
gnomAD v4:
19-8580888-G-T
MyVariant Identifiers:
chr19:g.8645772G>T (hg19)
chr19:g.8645772_8645774delinsTCC (hg19)
chr19:g.8580888G>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8580888G>T , CM000681.2:g.8580888G>T | GRCh38 |
| NC_000019.9:g.8645772G>T , CM000681.1:g.8645772G>T | GRCh37 |
| NC_000019.8:g.8551772G>T | NCBI36 |
| NG_011840.2:g.34815C>A | |
| NG_052844.1:g.1560C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000597188.6:c.*5C>A MANE Select | ENSP00000471851.1:n.*5C>A | |
| ENST00000270328.8:c.*5C>A | ENSP00000270328.4:n.*5C>A | |
| ENST00000593913.5:c.*2194C>A | ENSP00000469901.1:n.*2194C>A | |
| ENST00000595838.5:c.*5C>A | ENSP00000470501.1:n.*5C>A | |
| ENST00000597188.5:c.*5C>A | ENSP00000471851.1:n.*5C>A | |
| NM_001282352.1:c.*5C>A | NP_001269281.1:n.*5C>A | |
| NM_030957.3:c.*5C>A | NP_112219.3:n.*5C>A | |
| XM_006722917.2:c.*5C>A | XP_006722980.1:n.*5C>A | |
| XM_011528331.1:c.*5C>A | XP_011526633.1:n.*5C>A | |
| XM_011528332.1:c.*5C>A | XP_011526634.1:n.*5C>A | |
| XM_011528333.1:c.*5C>A | XP_011526635.1:n.*5C>A | |
| XM_011528334.1:c.*5C>A | XP_011526636.1:n.*5C>A | |
| XM_011528335.1:c.*5C>A | XP_011526637.1:n.*5C>A | |
| XM_011528336.1:c.*5C>A | XP_011526638.1:n.*5C>A | |
| XM_006722917.3:c.*5C>A | XP_006722980.1:n.*5C>A | |
| XM_017027338.2:c.*5C>A | XP_016882827.1:n.*5C>A | |
| XM_017027339.1:c.*5C>A | XP_016882828.1:n.*5C>A | |
| XM_017027340.1:c.*5C>A | XP_016882829.1:n.*5C>A | |
| NM_030957.4:c.*5C>A MANE Select | NP_112219.3:n.*5C>A | |
| NM_001282352.2:c.*5C>A | NP_001269281.1:n.*5C>A |