Linked Data
ClinVar Variation Id:
347725
dbSNP Id:
rs368322580
ExAC:
4:149075980 G / A
gnomAD v2:
4-149075980-G-A
gnomAD v3:
4-148154829-G-A
gnomAD v4:
4-148154829-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.148154829G>A , CM000666.2:g.148154829G>A | GRCh38 |
| NC_000004.11:g.149075980G>A , CM000666.1:g.149075980G>A | GRCh37 |
| NC_000004.10:g.149295430G>A | NCBI36 |
| NG_013350.1:g.292693C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358102.8:c.2087C>T MANE Select | ENSP00000350815.3:p.Pro696Leu | |
| ENST00000342437.8:c.2015-34541C>T | ENSP00000343907.4:n.2015-34541C>T | |
| ENST00000344721.8:c.2087C>T | ENSP00000341390.4:p.Pro696Leu | |
| ENST00000358102.7:c.2087C>T | ENSP00000350815.3:p.Pro696Leu | |
| ENST00000503174.1:n.16C>T | ||
| ENST00000503313.1:n.284C>T | ||
| ENST00000511528.1:c.2099C>T | ENSP00000421481.1:p.Pro700Leu | |
| ENST00000512865.5:c.2015-2216C>T | ENSP00000423510.1:n.2015-2216C>T | |
| ENST00000625323.2:c.2099C>T | ENSP00000486719.1:p.Pro700Leu | |
| NM_000901.4:c.2087C>T | NP_000892.2:p.Pro696Leu | |
| NM_001166104.1:c.2015-2216C>T | NP_001159576.1:n.2015-2216C>T | |
| XM_011531975.1:c.2099C>T | XP_011530277.1:p.Pro700Leu | |
| XM_011531976.1:c.2099C>T | XP_011530278.1:p.Pro700Leu | |
| XM_011531977.1:c.2099C>T | XP_011530279.1:p.Pro700Leu | |
| XM_011531978.1:c.2099C>T | XP_011530280.1:p.Pro700Leu | |
| NM_001354819.1:c.2015-2216C>T | NP_001341748.1:n.2015-2216C>T | |
| NR_148974.1:n.2378-34541C>T | ||
| XM_011531978.2:c.2099C>T | XP_011530280.1:p.Pro700Leu | |
| NM_000901.5:c.2087C>T MANE Select | NP_000892.2:p.Pro696Leu | |
| NM_001166104.2:c.2015-2216C>T | NP_001159576.1:n.2015-2216C>T | |
| NR_148974.2:n.2272-34541C>T |