Linked Data
dbSNP Id:
rs1257802763
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177492T>C , CM000678.2:g.177492T>C | GRCh38 |
| NC_000016.9:g.227491T>C , CM000678.1:g.227491T>C | GRCh37 |
| NC_000016.8:g.167491T>C | NCBI36 |
| NG_000006.1:g.38355T>C | |
| NG_059186.1:g.5842T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.*81T>C MANE Select | ENSP00000322421.5:n.*81T>C | |
| ENST00000397797.1:c.*81T>C | ENSP00000380899.1:n.*81T>C | |
| ENST00000472694.1:n.646T>C | ||
| NM_000558.4:c.*81T>C | NP_000549.1:n.*81T>C | |
| NM_000558.5:c.*81T>C MANE Select | NP_000549.1:n.*81T>C |