Linked Data
ClinVar Variation Id:
204175
dbSNP Id:
rs180177166
ExAC:
2:241808397 G / GCA
gnomAD v2:
2-241808397-G-GCA
gnomAD v3:
2-240868980-G-GCA
gnomAD v4:
2-240868980-G-GCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868981_240868982dup , CM000664.2:g.240868981_240868982dup | GRCh38 |
| NC_000002.11:g.241808398_241808399dup , CM000664.1:g.241808398_241808399dup | GRCh37 |
| NC_000002.10:g.241457071_241457072dup | NCBI36 |
| NG_008005.1:g.5237_5238dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.116_117dup MANE Select | ENSP00000302620.3:p.Ala40GlnfsTer7 | |
| ENST00000307503.3:c.116_117dup | ENSP00000302620.3:p.Ala40GlnfsTer7 | |
| ENST00000472436.1:n.136_137dup | ||
| NM_000030.2:c.116_117dup | NP_000021.1:p.Ala40GlnfsTer7 | |
| XR_924060.1:n.405+1251_405+1252dup | ||
| NM_000030.3:c.116_117dup MANE Select | NP_000021.1:p.Ala40GlnfsTer7 |