Linked Data
dbSNP Id:
rs2060996991
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61590847dup , CM000679.2:g.61590847dup | GRCh38 |
| NC_000017.10:g.59668208dup , CM000679.1:g.59668208dup | GRCh37 |
| NC_000017.9:g.57022990dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000521764.3:c.334dup MANE Select | ENSP00000427802.1:p.Tyr112LeufsTer? | |
| ENST00000521764.2:c.334dup | ENSP00000427802.1:p.Tyr112LeufsTer? | |
| NM_199290.3:c.334dup | NP_954984.1:p.Tyr112LeufsTer? | |
| NM_199290.4:c.334dup MANE Select | NP_954984.1:p.Tyr112LeufsTer? |