Linked Data
ClinVar Variation Id:
347298
ClinVar RCV Id:
RCV000262048
RCV000296840
RCV000312236
RCV000354089
RCV000369215
RCV000403804
RCV000408426
RCV003437101
RCV002057905
dbSNP Id:
rs139401187
ExAC:
4:111539394 G / A
gnomAD v2:
4-111539394-G-A
gnomAD v3:
4-110618238-G-A
gnomAD v4:
4-110618238-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.110618238G>A , CM000666.2:g.110618238G>A | GRCh38 |
| NC_000004.11:g.111539394G>A , CM000666.1:g.111539394G>A | GRCh37 |
| NC_000004.10:g.111758843G>A | NCBI36 |
| NG_007120.1:g.24115C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613094.5:c.*110C>T | ENSP00000484763.2:n.*110C>T | |
| ENST00000614423.5:c.760C>T | ENSP00000481951.2:p.Leu254= | |
| ENST00000616641.5:n.828C>T | ||
| ENST00000644488.2:n.832C>T | ||
| ENST00000394595.8:c.841C>T | ENSP00000378095.4:p.Leu281= | |
| ENST00000644488.1:n.904C>T | ||
| ENST00000644743.1:c.862C>T MANE Select | ENSP00000495061.1:p.Leu288= | |
| ENST00000645131.1:n.793C>T | ||
| ENST00000306732.7:c.862C>T | ENSP00000304169.3:p.Leu288= | |
| ENST00000354925.6:c.841C>T | ENSP00000347004.2:p.Leu281= | |
| ENST00000355080.9:c.703C>T | ENSP00000347192.5:p.Leu235= | |
| ENST00000394595.7:c.*110C>T | ENSP00000378095.3:n.*110C>T | |
| ENST00000394598.6:c.841C>T | ENSP00000378097.2:p.Leu281= | |
| ENST00000511837.5:c.841C>T | ENSP00000421454.1:p.Leu281= | |
| ENST00000607868.1:n.589C>T | ||
| ENST00000613094.4:c.841C>T | ENSP00000484763.1:p.Leu281= | |
| ENST00000614423.4:c.841C>T | ENSP00000481951.1:p.Leu281= | |
| ENST00000616641.4:c.703C>T | ENSP00000484909.1:p.Leu235= | |
| NM_000325.5:c.862C>T | NP_000316.2:p.Leu288= | |
| NM_001204397.1:c.841C>T | NP_001191326.1:p.Leu281= | |
| NM_001204398.1:c.841C>T | NP_001191327.1:p.Leu281= | |
| NM_001204399.1:c.703C>T | NP_001191328.1:p.Leu235= | |
| NM_153426.2:c.841C>T | NP_700475.1:p.Leu281= | |
| NM_153427.2:c.703C>T | NP_700476.1:p.Leu235= | |
| XM_006714235.2:c.841C>T | XP_006714298.1:p.Leu281= | |
| XM_011532027.1:c.703C>T | XP_011530329.1:p.Leu235= | |
| XM_024454090.1:c.508C>T | XP_024309858.1:p.Leu170= | |
| NM_000325.6:c.862C>T MANE Select | NP_000316.2:p.Leu288= | |
| NM_001204397.2:c.841C>T | NP_001191326.1:p.Leu281= | |
| NM_153426.3:c.841C>T | NP_700475.1:p.Leu281= | |
| NM_153427.3:c.703C>T | NP_700476.1:p.Leu235= |