Linked Data
dbSNP Id:
rs763625282
ExAC:
10:96535222 T / C
gnomAD v3:
10-94775465-T-C
gnomAD v4:
10-94775465-T-C
COSMIC:
COSM5050429
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94775465T>C , CM000672.2:g.94775465T>C | GRCh38 |
| NC_000010.10:g.96535222T>C , CM000672.1:g.96535222T>C | GRCh37 |
| NC_000010.9:g.96525212T>C | NCBI36 |
| NG_008384.2:g.17760T>C | |
| NG_008384.3:g.17785T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.407T>C MANE Select | ENSP00000360372.3:p.Met136Thr | |
| ENST00000645461.1:n.1460T>C | ||
| ENST00000371321.7:c.407T>C | ENSP00000360372.3:p.Met136Thr | |
| ENST00000464755.1:c.1170T>C | ENSP00000483243.1:n.1170T>C | |
| ENST00000480405.2:c.407T>C | ENSP00000483847.1:p.Met136Thr | |
| NM_000769.2:c.407T>C | NP_000760.1:p.Met136Thr | |
| NM_000769.4:c.407T>C MANE Select | NP_000760.1:p.Met136Thr |