Linked Data
ClinVar Variation Id:
381583
ClinVar RCV Id:
RCV002318412
dbSNP Id:
rs199886234
ExAC:
19:13325090 C / T
gnomAD v2:
19-13325090-C-T
gnomAD v3:
19-13214276-C-T
gnomAD v4:
19-13214276-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13214276C>T , CM000681.2:g.13214276C>T | GRCh38 |
| NC_000019.9:g.13325090C>T , CM000681.1:g.13325090C>T | GRCh37 |
| NC_000019.8:g.13186090C>T | NCBI36 |
| NG_011569.1:g.297185G>A , LRG_7:g.297185G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360228.11:c.5897G>A MANE Select | ENSP00000353362.5:p.Arg1966Gln | |
| ENST00000573710.7:c.5903G>A | ENSP00000460092.3:p.Arg1968Gln | |
| ENST00000585802.6:c.1058G>A | ENSP00000465598.2:p.Arg353Gln | |
| ENST00000635727.1:c.5900G>A | ENSP00000490001.1:p.Arg1967Gln | |
| ENST00000635895.1:c.5900G>A | ENSP00000490323.1:p.Arg1967Gln | |
| ENST00000635988.1:n.2055G>A | ||
| ENST00000636012.1:c.5900G>A | ENSP00000490223.1:p.Arg1967Gln | |
| ENST00000636074.1:n.959G>A | ||
| ENST00000636389.1:c.5900G>A | ENSP00000489992.1:p.Arg1967Gln | |
| ENST00000636473.1:c.767G>A | ENSP00000490173.1:p.Arg256Gln | |
| ENST00000636549.1:c.5906G>A | ENSP00000490578.1:p.Arg1969Gln | |
| ENST00000636610.1:n.814G>A | ||
| ENST00000636768.1:c.427G>A | ENSP00000490190.1:n.427G>A | |
| ENST00000637276.1:c.5900G>A | ENSP00000489777.1:p.Arg1967Gln | |
| ENST00000637432.1:c.5915G>A | ENSP00000490617.1:p.Arg1972Gln | |
| ENST00000637736.1:c.5759G>A | ENSP00000489861.1:p.Arg1920Gln | |
| ENST00000637769.1:c.5900G>A | ENSP00000489778.1:p.Arg1967Gln | |
| ENST00000637819.1:c.1301G>A | ENSP00000490686.1:p.Arg434Gln | |
| ENST00000637927.1:c.5903G>A | ENSP00000489715.1:p.Arg1968Gln | |
| ENST00000638009.2:c.5900G>A | ENSP00000489913.1:p.Arg1967Gln | |
| ENST00000638029.1:c.5915G>A | ENSP00000489829.1:p.Arg1972Gln | |
| ENST00000638114.1:n.109G>A | ||
| ENST00000664864.1:c.6101G>A | ENSP00000499449.1:p.Arg2034Gln | |
| ENST00000360228.9:c.5897G>A | ENSP00000353362.5:p.Arg1966Gln | |
| ENST00000573710.6:c.5900G>A | ENSP00000460092.2:p.Arg1967Gln | |
| ENST00000585802.5:c.1955G>A | ENSP00000465598.1:p.Arg652Gln | |
| ENST00000587525.5:c.1358G>A | ENSP00000467729.1:p.Arg453Gln | |
| ENST00000614285.4:c.5915G>A | ENSP00000479983.1:p.Arg1972Gln | |
| NM_000068.3:c.5915G>A | NP_000059.3:p.Arg1972Gln | |
| NM_001127221.1:c.5900G>A , LRG_7t1:c.5900G>A | NP_001120693.1:p.Arg1967Gln | |
| NM_001127222.1:c.5897G>A | NP_001120694.1:p.Arg1966Gln | |
| NM_001174080.1:c.5906G>A | NP_001167551.1:p.Arg1969Gln | |
| NM_023035.2:c.5915G>A | NP_075461.2:p.Arg1972Gln | |
| NM_000068.4:c.5915G>A | NP_000059.3:p.Arg1972Gln | |
| NM_001127222.2:c.5897G>A MANE Select | NP_001120694.1:p.Arg1966Gln | |
| NM_001174080.2:c.5906G>A | NP_001167551.1:p.Arg1969Gln | |
| NM_023035.3:c.5915G>A | NP_075461.2:p.Arg1972Gln | |
| NM_001127221.2:c.5900G>A | NP_001120693.1:p.Arg1967Gln |