Linked Data
ClinVar Variation Id:
245910
ClinVar RCV Id:
RCV000474498
RCV000766571
RCV001131681
RCV001172762
RCV001283504
RCV001814975
RCV002321902
dbSNP Id:
rs139188673
ExAC:
19:40901073 C / A
gnomAD v2:
19-40901073-C-A
gnomAD v3:
19-40395166-C-A
gnomAD v4:
19-40395166-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40395166C>A , CM000681.2:g.40395166C>A | GRCh38 |
| NC_000019.9:g.40901073C>A , CM000681.1:g.40901073C>A | GRCh37 |
| NC_000019.8:g.45592913C>A | NCBI36 |
| NG_007979.1:g.23199G>T , LRG_265:g.23199G>T | |
| NG_051224.1:g.56G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324001.8:c.3186G>T MANE Select | ENSP00000326018.6:p.Lys1062Asn | |
| ENST00000673881.1:c.2769G>T | ENSP00000501070.1:p.Lys923Asn | |
| ENST00000674005.2:c.3471G>T | ENSP00000501261.1:p.Lys1157Asn | |
| ENST00000674773.1:c.2769G>T | ENSP00000502579.1:p.Lys923Asn | |
| ENST00000675517.1:c.3061G>T | ||
| ENST00000676076.1:c.3047G>T | ||
| ENST00000676260.1:c.3148G>T | ||
| ENST00000676316.1:c.3073G>T | ||
| ENST00000291825.11:c.*3391G>T | ENSP00000291825.6:n.*3391G>T | |
| ENST00000324001.7:c.3186G>T | ENSP00000326018.6:p.Lys1062Asn | |
| NM_020956.2:c.*3391G>T , LRG_265t1:c.*3391G>T | NP_066007.1:n.*3391G>T | |
| NM_181882.2:c.3186G>T , LRG_265t2:c.3186G>T | NP_870998.2:p.Lys1062Asn | |
| XM_011527171.1:c.3186G>T | XP_011525473.1:p.Lys1062Asn | |
| XM_011527171.2:c.3186G>T | XP_011525473.1:p.Lys1062Asn | |
| XM_017027046.1:c.3084G>T | XP_016882535.1:p.Lys1028Asn | |
| XM_017027047.1:c.3084G>T | XP_016882536.1:p.Lys1028Asn | |
| NM_181882.3:c.3186G>T MANE Select | NP_870998.2:p.Lys1062Asn |