Linked Data
dbSNP Id:
rs747949882
ExAC:
2:29294022 G / GT
gnomAD v2:
2-29294022-G-GT
gnomAD v4:
2-29071156-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29071156_29071157insT , CM000664.2:g.29071156_29071157insT | GRCh38 |
| NC_000002.11:g.29294022_29294023insT , CM000664.1:g.29294022_29294023insT | GRCh37 |
| NC_000002.10:g.29147526_29147527insT | NCBI36 |
| NG_021427.1:g.8105_8106insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.3105_3106insA MANE Select | ENSP00000332809.4:p.Pro1036ThrfsTer? | |
| ENST00000331664.5:c.3105_3106insA | ENSP00000332809.4:p.Pro1036ThrfsTer? | |
| NM_001029883.2:c.3105_3106insA | NP_001025054.1:p.Pro1036ThrfsTer? | |
| XM_011532826.1:c.3105_3106insA | XP_011531128.1:p.Pro1036ThrfsTer? | |
| XR_939901.1:n.185+1989_185+1990insT | ||
| XR_939902.1:n.173+2001_173+2002insT | ||
| NM_001029883.3:c.3105_3106insA MANE Select | NP_001025054.1:p.Pro1036ThrfsTer? |