Linked Data
dbSNP Id:
rs2086758562
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45910016C>G , CM000673.2:g.45910016C>G | GRCh38 |
| NC_000011.9:g.45931567C>G , CM000673.1:g.45931567C>G | GRCh37 |
| NC_000011.8:g.45888143C>G | NCBI36 |
| NG_008460.1:g.13108G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378750.10:c.*238G>C MANE Select | ENSP00000368024.5:n.*238G>C | |
| ENST00000241041.7:c.*73G>C | ENSP00000241041.3:n.*73G>C | |
| NM_004813.2:c.*238G>C | NP_004804.1:n.*238G>C | |
| NM_057174.2:c.*73G>C | NP_476515.1:n.*73G>C | |
| NM_004813.3:c.*238G>C | NP_004804.1:n.*238G>C | |
| NM_004813.4:c.*238G>C MANE Select | NP_004804.2:n.*238G>C | |
| NM_057174.3:c.*73G>C | NP_476515.2:n.*73G>C |