Linked Data
ClinVar Variation Id:
370100
dbSNP Id:
rs748993388
ExAC:
8:87683218 C / CA
gnomAD v2:
8-87683218-C-CA
gnomAD v4:
8-86670990-C-CA
PubMed:
PMID:12357335
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86670990_86670991insA , CM000670.2:g.86670990_86670991insA | GRCh38 |
| NC_000008.10:g.87683218_87683219insA , CM000670.1:g.87683218_87683219insA | GRCh37 |
| NC_000008.9:g.87752334_87752335insA | NCBI36 |
| NG_016980.1:g.77685_77686insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.446_447insT MANE Select | ENSP00000316605.5:p.Lys149AsnfsTer30 | |
| ENST00000680314.1:n.207_208insT | ||
| ENST00000681746.1:c.446_447insT | ENSP00000505959.1:p.Lys149AsnfsTer30 | |
| ENST00000320005.5:c.446_447insT | ENSP00000316605.5:p.Lys149AsnfsTer30 | |
| NM_019098.4:c.446_447insT | NP_061971.3:p.Lys149AsnfsTer30 | |
| XM_011517138.1:c.32_33insT | XP_011515440.1:p.Lys11AsnfsTer30 | |
| XM_011517138.2:c.32_33insT | XP_011515440.1:p.Lys11AsnfsTer30 | |
| NM_019098.5:c.446_447insT MANE Select | NP_061971.3:p.Lys149AsnfsTer30 |