Linked Data
ClinVar Variation Id:
220296
ClinVar RCV Id:
RCV001081115
RCV001156005
RCV001153405
RCV000205289
RCV002415868
RCV000789695
RCV004530230
dbSNP Id:
rs141649676
ExAC:
5:148431777 T / C
gnomAD v2:
5-148431777-T-C
gnomAD v3:
5-149052214-T-C
gnomAD v4:
5-149052214-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149052214T>C , CM000667.2:g.149052214T>C | GRCh38 |
| NC_000005.9:g.148431777T>C , CM000667.1:g.148431777T>C | GRCh37 |
| NC_000005.8:g.148411970T>C | NCBI36 |
| NG_007947.2:g.15961A>G , LRG_269:g.15961A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.27A>G | ||
| ENST00000515425.6:c.79A>G MANE Select | ENSP00000423660.1:p.Thr27Ala | |
| ENST00000674983.1:c.79A>G | ENSP00000502387.1:p.Thr27Ala | |
| ENST00000675793.1:c.79A>G | ENSP00000502039.1:p.Thr27Ala | |
| ENST00000676056.1:c.79A>G | ENSP00000501827.1:p.Thr27Ala | |
| ENST00000323829.9:c.79A>G | ENSP00000313025.5:p.Thr27Ala | |
| ENST00000504091.1:n.115A>G | ||
| ENST00000504690.5:c.79A>G | ENSP00000425627.1:p.Thr27Ala | |
| ENST00000511307.5:c.79A>G | ENSP00000421420.1:p.Thr27Ala | |
| ENST00000511949.5:n.119A>G | ||
| ENST00000512049.5:c.79A>G | ENSP00000421860.1:p.Thr27Ala | |
| ENST00000513604.5:c.79A>G | ENSP00000423111.1:p.Thr27Ala | |
| ENST00000515425.5:c.79A>G | ENSP00000423660.1:p.Thr27Ala | |
| NM_024577.3:c.79A>G , LRG_269t1:c.79A>G | NP_078853.2:p.Thr27Ala | |
| NM_024577.4:c.79A>G MANE Select | NP_078853.2:p.Thr27Ala |