Linked Data
ClinVar Variation Id:
1127310
ClinVar RCV Id:
RCV001459695
dbSNP Id:
rs561495897
gnomAD v2:
19-7598672-G-T
gnomAD v3:
19-7533786-G-T
gnomAD v4:
19-7533786-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533786G>T , CM000681.2:g.7533786G>T | GRCh38 |
| NC_000019.9:g.7598672G>T , CM000681.1:g.7598672G>T | GRCh37 |
| NC_000019.8:g.7504672G>T | NCBI36 |
| NG_013374.1:g.4635G>T | |
| NG_015806.1:g.16177G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1734G>T MANE Select | ENSP00000264079.5:p.Leu578= | |
| ENST00000264079.10:c.1734G>T | ENSP00000264079.5:p.Leu578= | |
| ENST00000394321.9:n.2049G>T | ||
| ENST00000599334.1:c.462G>T | ||
| ENST00000601870.1:c.87G>T | ||
| ENST00000602227.1:n.288G>T | ||
| NM_020533.2:c.1734G>T | NP_065394.1:p.Leu578= | |
| NM_020533.3:c.1734G>T MANE Select | NP_065394.1:p.Leu578= |