Linked Data
dbSNP Id:
rs761189887
ExAC:
10:96609705 T / C
gnomAD v3:
10-94849948-T-C
gnomAD v4:
10-94849948-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94849948T>C , CM000672.2:g.94849948T>C | GRCh38 |
| NC_000010.10:g.96609705T>C , CM000672.1:g.96609705T>C | GRCh37 |
| NC_000010.9:g.96599695T>C | NCBI36 |
| NG_008384.2:g.92243T>C | |
| NG_008384.3:g.92268T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.1181T>C MANE Select | ENSP00000360372.3:p.Val394Ala | |
| ENST00000645461.1:n.2092T>C | ||
| ENST00000371321.7:c.1181T>C | ENSP00000360372.3:p.Val394Ala | |
| ENST00000464755.1:c.1944T>C | ENSP00000483243.1:n.1944T>C | |
| NM_000769.2:c.1181T>C | NP_000760.1:p.Val394Ala | |
| NM_000769.4:c.1181T>C MANE Select | NP_000760.1:p.Val394Ala |