Linked Data
ClinVar Variation Id:
447023
dbSNP Id:
rs77154172
ExAC:
14:91739969 A / G
gnomAD v2:
14-91739969-A-G
gnomAD v3:
14-91273625-A-G
gnomAD v4:
14-91273625-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91273625A>G , CM000676.2:g.91273625A>G | GRCh38 |
| NC_000014.8:g.91739969A>G , CM000676.1:g.91739969A>G | GRCh37 |
| NC_000014.7:g.90809722A>G | NCBI36 |
| NG_033118.1:g.149220T>C | |
| NG_033118.2:g.149220T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000389857.11:c.5087T>C MANE Select | ENSP00000374507.6:p.Leu1696Pro | |
| ENST00000331194.8:c.659T>C | ENSP00000330332.8:p.Leu220Pro | |
| ENST00000334448.5:n.899T>C | ||
| ENST00000389857.10:c.5087T>C | ENSP00000374507.6:p.Leu1696Pro | |
| ENST00000556726.5:c.1315T>C | ||
| NM_001080414.3:c.5087T>C | NP_001073883.2:p.Leu1696Pro | |
| XM_011536796.1:c.4979T>C | XP_011535098.1:p.Leu1660Pro | |
| XR_429316.2:n.5362T>C | ||
| XM_011536796.2:c.4979T>C | XP_011535098.1:p.Leu1660Pro | |
| XM_017021336.1:c.2168T>C | XP_016876825.1:p.Leu723Pro | |
| XR_429316.4:n.5360T>C | ||
| NM_001080414.4:c.5087T>C MANE Select | NP_001073883.2:p.Leu1696Pro |