Linked Data
dbSNP Id:
rs1712902158
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.40354454dup , CM000666.2:g.40354454dup | GRCh38 |
| NC_000004.11:g.40356471dup , CM000666.1:g.40356471dup | GRCh37 |
| NC_000004.10:g.40051228dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310169.3:c.1374dup MANE Select | ENSP00000312663.2:p.Phe459LeufsTer? | |
| ENST00000310169.2:c.1374dup | ENSP00000312663.2:p.Phe459LeufsTer? | |
| NM_017581.3:c.1374dup | NP_060051.2:p.Phe459LeufsTer? | |
| NM_017581.4:c.1374dup MANE Select | NP_060051.2:p.Phe459LeufsTer? |