Linked Data
ClinVar Variation Id:
450300
dbSNP Id:
rs141963371
ExAC:
19:13323509 T / C
gnomAD v2:
19-13323509-T-C
gnomAD v3:
19-13212695-T-C
gnomAD v4:
19-13212695-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13212695T>C , CM000681.2:g.13212695T>C | GRCh38 |
| NC_000019.9:g.13323509T>C , CM000681.1:g.13323509T>C | GRCh37 |
| NC_000019.8:g.13184509T>C | NCBI36 |
| NG_011569.1:g.298766A>G , LRG_7:g.298766A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360228.11:c.5986A>G MANE Select | ENSP00000353362.5:p.Thr1996Ala | |
| ENST00000573710.7:c.5992A>G | ENSP00000460092.3:p.Thr1998Ala | |
| ENST00000585802.6:c.1147A>G | ENSP00000465598.2:p.Thr383Ala | |
| ENST00000635727.1:c.5989A>G | ENSP00000490001.1:p.Thr1997Ala | |
| ENST00000635895.1:c.5989A>G | ENSP00000490323.1:p.Thr1997Ala | |
| ENST00000636012.1:c.5989A>G | ENSP00000490223.1:p.Thr1997Ala | |
| ENST00000636389.1:c.5989A>G | ENSP00000489992.1:p.Thr1997Ala | |
| ENST00000636473.1:c.856A>G | ENSP00000490173.1:p.Thr286Ala | |
| ENST00000636549.1:c.5995A>G | ENSP00000490578.1:p.Thr1999Ala | |
| ENST00000636610.1:n.903A>G | ||
| ENST00000636768.1:c.516A>G | ENSP00000490190.1:n.516A>G | |
| ENST00000637276.1:c.5989A>G | ENSP00000489777.1:p.Thr1997Ala | |
| ENST00000637432.1:c.6004A>G | ENSP00000490617.1:p.Thr2002Ala | |
| ENST00000637736.1:c.5848A>G | ENSP00000489861.1:p.Thr1950Ala | |
| ENST00000637769.1:c.5989A>G | ENSP00000489778.1:p.Thr1997Ala | |
| ENST00000637927.1:c.5992A>G | ENSP00000489715.1:p.Thr1998Ala | |
| ENST00000638009.2:c.5989A>G | ENSP00000489913.1:p.Thr1997Ala | |
| ENST00000638029.1:c.6004A>G | ENSP00000489829.1:p.Thr2002Ala | |
| ENST00000664864.1:c.6190A>G | ENSP00000499449.1:p.Thr2064Ala | |
| ENST00000360228.9:c.5986A>G | ENSP00000353362.5:p.Thr1996Ala | |
| ENST00000573710.6:c.5989A>G | ENSP00000460092.2:p.Thr1997Ala | |
| ENST00000585802.5:c.2044A>G | ENSP00000465598.1:p.Thr682Ala | |
| ENST00000587525.5:c.1447A>G | ENSP00000467729.1:p.Thr483Ala | |
| ENST00000614285.4:c.6004A>G | ENSP00000479983.1:p.Thr2002Ala | |
| NM_000068.3:c.6004A>G | NP_000059.3:p.Thr2002Ala | |
| NM_001127221.1:c.5989A>G , LRG_7t1:c.5989A>G | NP_001120693.1:p.Thr1997Ala | |
| NM_001127222.1:c.5986A>G | NP_001120694.1:p.Thr1996Ala | |
| NM_001174080.1:c.5995A>G | NP_001167551.1:p.Thr1999Ala | |
| NM_023035.2:c.6004A>G | NP_075461.2:p.Thr2002Ala | |
| NM_000068.4:c.6004A>G | NP_000059.3:p.Thr2002Ala | |
| NM_001127222.2:c.5986A>G MANE Select | NP_001120694.1:p.Thr1996Ala | |
| NM_001174080.2:c.5995A>G | NP_001167551.1:p.Thr1999Ala | |
| NM_023035.3:c.6004A>G | NP_075461.2:p.Thr2002Ala | |
| NM_001127221.2:c.5989A>G | NP_001120693.1:p.Thr1997Ala |