Linked Data
ClinVar Variation Id:
2930247
ClinVar RCV Id:
RCV003787605
dbSNP Id:
rs775668536
ExAC:
5:149361100 T / C
gnomAD v2:
5-149361100-T-C
gnomAD v3:
5-149981537-T-C
gnomAD v4:
5-149981537-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149981537T>C , CM000667.2:g.149981537T>C | GRCh38 |
| NC_000005.9:g.149361100T>C , CM000667.1:g.149361100T>C | GRCh37 |
| NC_000005.8:g.149341293T>C | NCBI36 |
| NG_007147.2:g.22655T>C , LRG_684:g.22655T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.1944T>C MANE Select | ENSP00000286298.4:p.Thr648= | |
| ENST00000286298.4:c.1944T>C | ENSP00000286298.4:p.Thr648= | |
| ENST00000503336.1:c.372+3186T>C | ENSP00000426053.1:n.372+3186T>C | |
| NM_000112.3:c.1944T>C , LRG_684t1:c.1944T>C | NP_000103.2:p.Thr648= | |
| XM_017009191.2:c.1944T>C | XP_016864680.1:p.Thr648= | |
| NM_000112.4:c.1944T>C MANE Select | NP_000103.2:p.Thr648= |