Linked Data
dbSNP Id:
rs1206489003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151666143T>C , CM000668.2:g.151666143T>C | GRCh38 |
| NC_000006.11:g.151987278T>C , CM000668.1:g.151987278T>C | GRCh37 |
| NC_000006.10:g.152028971T>C | NCBI36 |
| NG_008493.2:g.14453T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000473497.5:n.73+9380T>C | ||
| XM_017010376.1:c.-202+9380T>C | XP_016865865.1:n.-202+9380T>C | |
| XM_017010377.1:c.-260-247T>C | XP_016865866.1:n.-260-247T>C | |
| XM_017010380.1:c.-71+9380T>C | XP_016865869.1:n.-71+9380T>C | |
| NM_001385568.1:c.-202+9380T>C | NP_001372497.1:n.-202+9380T>C |