Linked Data
dbSNP Id:
rs1755659008
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1394335T>G , CM000667.2:g.1394335T>G | GRCh38 |
| NC_000005.9:g.1394450T>G , CM000667.1:g.1394450T>G | GRCh37 |
| NC_000005.8:g.1447450T>G | NCBI36 |
| NG_015885.1:g.56094A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000270349.12:c.*400A>C MANE Select | ENSP00000270349.9:n.*400A>C | |
| ENST00000270349.11:c.*400A>C | ENSP00000270349.9:n.*400A>C | |
| ENST00000512002.2:n.644A>C | ||
| NM_001044.4:c.*400A>C | NP_001035.1:n.*400A>C | |
| NM_001044.5:c.*400A>C MANE Select | NP_001035.1:n.*400A>C |