Linked Data
ClinVar Variation Id:
2104031
ClinVar RCV Id:
RCV003022393
dbSNP Id:
rs1284411185
gnomAD v2:
19-7600810-G-T
gnomAD v4:
19-7535924-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7535924G>T , CM000681.2:g.7535924G>T | GRCh38 |
| NC_000019.9:g.7600810G>T , CM000681.1:g.7600810G>T | GRCh37 |
| NC_000019.8:g.7506810G>T | NCBI36 |
| NG_013374.1:g.6773G>T | |
| NG_015806.1:g.18315G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600737.6:c.136G>T MANE Select | ENSP00000473211.1:p.Val46Phe | |
| ENST00000221249.10:c.28-9G>T | ENSP00000221249.5:n.28-9G>T | |
| ENST00000414982.7:c.163G>T | ENSP00000407509.2:p.Val55Phe | |
| ENST00000450331.7:c.28-9G>T | ENSP00000394348.2:n.28-9G>T | |
| ENST00000545201.6:c.28-9G>T | ENSP00000443323.1:n.28-9G>T | |
| ENST00000593924.5:c.28-9G>T | ENSP00000469794.1:n.28-9G>T | |
| ENST00000596515.5:c.28-9G>T | ENSP00000470461.1:n.28-9G>T | |
| ENST00000600737.5:c.136G>T | ENSP00000473211.1:p.Val46Phe | |
| ENST00000600942.5:c.28-9G>T | ENSP00000472572.1:n.28-9G>T | |
| ENST00000601001.5:c.28-9G>T | ENSP00000472631.1:n.28-9G>T | |
| ENST00000601668.5:c.28-9G>T | ENSP00000470608.1:n.28-9G>T | |
| ENST00000601870.1:c.532-9G>T | ||
| NM_001166111.1:c.163G>T | NP_001159583.1:p.Val55Phe | |
| NM_001166112.1:c.28-9G>T | NP_001159584.1:n.28-9G>T | |
| NM_001166113.1:c.28-9G>T | NP_001159585.1:n.28-9G>T | |
| NM_001166114.1:c.136G>T | NP_001159586.1:p.Val46Phe | |
| NM_006702.4:c.28-9G>T | NP_006693.3:n.28-9G>T | |
| NM_001166111.2:c.163G>T | NP_001159583.1:p.Val55Phe | |
| NM_001166114.2:c.136G>T MANE Select | NP_001159586.1:p.Val46Phe | |
| NM_006702.5:c.28-9G>T | NP_006693.3:n.28-9G>T | |
| NM_001166112.2:c.28-9G>T | NP_001159584.1:n.28-9G>T |