Linked Data
dbSNP Id:
rs2073596047
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154992947A>G , CM000685.2:g.154992947A>G | GRCh38 |
| NC_000023.10:g.154221222A>G , CM000685.1:g.154221222A>G | GRCh37 |
| NC_000023.9:g.153874416A>G | NCBI36 |
| NG_011403.1:g.34777T>C | |
| NG_011403.2:g.34777T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.590T>C MANE Select | ENSP00000353393.4:p.Val197Ala | |
| ENST00000647125.1:c.*376T>C | ENSP00000496062.1:n.*376T>C | |
| ENST00000360256.8:c.590T>C | ENSP00000353393.4:p.Val197Ala | |
| ENST00000423959.5:c.485T>C | ENSP00000409446.1:p.Val162Ala | |
| NM_000132.3:c.590T>C | NP_000123.1:p.Val197Ala | |
| XM_011531126.1:c.485T>C | XP_011529428.1:p.Val162Ala | |
| NM_000132.4:c.590T>C MANE Select | NP_000123.1:p.Val197Ala |