Linked Data
ClinVar Variation Id:
380920
ClinVar RCV Id:
RCV000437303
dbSNP Id:
rs25497
ExAC:
6:30691490 G / A
gnomAD v2:
6-30691490-G-A
gnomAD v3:
6-30723713-G-A
gnomAD v4:
6-30723713-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30723713G>A , CM000668.2:g.30723713G>A | GRCh38 |
| NC_000006.11:g.30691490G>A , CM000668.1:g.30691490G>A | GRCh37 |
| NC_000006.10:g.30799469G>A | NCBI36 |
| NG_034142.1:g.8513G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327892.13:c.651G>A MANE Select | ENSP00000339001.7:p.Leu217= | |
| ENST00000680530.1:n.1513G>A | ||
| ENST00000681421.1:n.1717G>A | ||
| ENST00000681435.1:c.435G>A | ENSP00000506665.1:p.Leu145= | |
| ENST00000327892.12:c.651G>A | ENSP00000339001.7:p.Leu217= | |
| ENST00000330914.7:c.435G>A | ENSP00000365578.2:p.Leu145= | |
| ENST00000396384.1:c.435G>A | ENSP00000379668.1:p.Leu145= | |
| ENST00000396389.5:c.597G>A | ENSP00000379672.1:p.Leu199= | |
| NM_001293212.1:c.711G>A | NP_001280141.1:p.Leu237= | |
| NM_001293213.1:c.369+282G>A | NP_001280142.1:n.369+282G>A | |
| NM_001293214.1:c.519G>A | NP_001280143.1:p.Leu173= | |
| NM_001293215.1:c.435G>A | NP_001280144.1:p.Leu145= | |
| NM_001293216.1:c.435G>A | NP_001280145.1:p.Leu145= | |
| NM_178014.3:c.651G>A | NP_821133.1:p.Leu217= | |
| NR_120608.1:n.584-226G>A | ||
| NM_178014.4:c.651G>A MANE Select | NP_821133.1:p.Leu217= | |
| NM_001293212.2:c.711G>A | NP_001280141.1:p.Leu237= | |
| NM_001293213.2:c.369+282G>A | NP_001280142.1:n.369+282G>A | |
| NM_001293214.2:c.519G>A | NP_001280143.1:p.Leu173= | |
| NM_001293215.2:c.435G>A | NP_001280144.1:p.Leu145= | |
| NM_001293216.2:c.435G>A | NP_001280145.1:p.Leu145= | |
| NR_120608.2:n.433-226G>A |