Linked Data
dbSNP Id:
rs1270074209
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154966456T>C , CM000685.2:g.154966456T>C | GRCh38 |
| NC_000023.10:g.154194731T>C , CM000685.1:g.154194731T>C | GRCh37 |
| NC_000023.9:g.153847925T>C | NCBI36 |
| NG_011403.1:g.61268A>G | |
| NG_011403.2:g.61268A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1241A>G MANE Select | ENSP00000353393.4:p.Tyr414Cys | |
| ENST00000647125.1:c.*1117A>G | ENSP00000496062.1:n.*1117A>G | |
| ENST00000360256.8:c.1241A>G | ENSP00000353393.4:p.Tyr414Cys | |
| ENST00000483822.2:n.61A>G | ||
| NM_000132.3:c.1241A>G | NP_000123.1:p.Tyr414Cys | |
| XM_011531126.1:c.1136A>G | XP_011529428.1:p.Tyr379Cys | |
| NM_000132.4:c.1241A>G MANE Select | NP_000123.1:p.Tyr414Cys |