Linked Data
dbSNP Id:
rs1187213464
gnomAD v2:
5-150639451-A-AC
gnomAD v3:
5-151259890-A-AC
gnomAD v4:
5-151259890-A-AC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151259890_151259891insC , CM000667.2:g.151259890_151259891insC | GRCh38 |
| NC_000005.9:g.150639451_150639452insC , CM000667.1:g.150639451_150639452insC | GRCh37 |
| NC_000005.8:g.150619644_150619645insC | NCBI36 |
| NG_009059.1:g.11839_11840insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357164.4:c.217_218insC MANE Select | ENSP00000349687.3:p.Ser73ThrfsTer? | |
| ENST00000357164.3:c.217_218insC | ENSP00000349687.3:p.Ser73ThrfsTer? | |
| ENST00000523004.1:c.92_93insC | ||
| ENST00000523466.5:c.262_263insC | ENSP00000429100.1:p.Ser88ThrfsTer? | |
| NM_000405.4:c.217_218insC | NP_000396.2:p.Ser73ThrfsTer? | |
| NM_001167607.1:c.217_218insC | NP_001161079.1:p.Ser73ThrfsTer? | |
| NM_000405.5:c.217_218insC MANE Select | NP_000396.2:p.Ser73ThrfsTer? | |
| NM_001167607.2:c.217_218insC | NP_001161079.1:p.Ser73ThrfsTer? | |
| NM_001167607.3:c.217_218insC | NP_001161079.1:p.Ser73ThrfsTer? |