Linked Data
dbSNP Id:
rs2123873135
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27750901A>G , CM000684.2:g.27750901A>G | GRCh38 |
| NC_000022.10:g.28146889A>G , CM000684.1:g.28146889A>G | GRCh37 |
| NC_000022.9:g.26476889A>G | NCBI36 |
| NG_023258.1:g.55598T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703102.1:n.502T>C | ||
| ENST00000302326.5:c.*14T>C MANE Select | ENSP00000304956.4:n.*14T>C | |
| ENST00000302326.4:c.*14T>C | ENSP00000304956.4:n.*14T>C | |
| ENST00000424656.1:c.330T>C | ||
| ENST00000497225.1:n.333T>C | ||
| NM_002430.2:c.*14T>C | NP_002421.3:n.*14T>C | |
| NM_002430.3:c.*14T>C MANE Select | NP_002421.3:n.*14T>C |