Linked Data
ClinVar Variation Id:
45847
ClinVar RCV Id:
RCV000039078
RCV000157253
RCV000463617
RCV000621167
RCV000757414
RCV001124559
RCV001123480
dbSNP Id:
rs151178348
ExAC:
17:39912027 G / A
gnomAD v2:
17-39912027-G-A
gnomAD v3:
17-41755775-G-A
gnomAD v4:
17-41755775-G-A
PubMed:
PMID:26220970
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41755775G>A , CM000679.2:g.41755775G>A | GRCh38 |
| NC_000017.10:g.39912027G>A , CM000679.1:g.39912027G>A | GRCh37 |
| NC_000017.9:g.37165553G>A | NCBI36 |
| NG_009090.2:g.35938C>T , LRG_401:g.35938C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393931.8:c.2207C>T MANE Select | ENSP00000377508.3:p.Pro736Leu | |
| ENST00000310706.9:c.2207C>T | ENSP00000311113.5:p.Pro736Leu | |
| ENST00000393930.5:c.2207C>T | ENSP00000377507.1:p.Pro736Leu | |
| ENST00000393931.7:c.2207C>T | ENSP00000377508.3:p.Pro736Leu | |
| NM_002230.2:c.2207C>T , LRG_401t2:c.2207C>T | NP_002221.1:p.Pro736Leu | |
| NM_021991.2:c.2207C>T , LRG_401t1:c.2207C>T | NP_068831.1:p.Pro736Leu | |
| XM_006721873.1:c.2207C>T | XP_006721936.1:p.Pro736Leu | |
| XM_006721874.1:c.2207C>T | XP_006721937.1:p.Pro736Leu | |
| XM_006721875.1:c.2207C>T | XP_006721938.1:p.Pro736Leu | |
| XM_006721878.1:c.2207C>T | XP_006721941.1:p.Pro736Leu | |
| XM_011524753.1:c.2207C>T | XP_011523055.1:p.Pro736Leu | |
| XM_011524754.1:c.2207C>T | XP_011523056.1:p.Pro736Leu | |
| XM_011524755.1:c.2207C>T | XP_011523057.1:p.Pro736Leu | |
| XM_011524756.1:c.2207C>T | XP_011523058.1:p.Pro736Leu | |
| XM_011524757.1:c.2207C>T | XP_011523059.1:p.Pro736Leu | |
| XM_011524758.1:c.2207C>T | XP_011523060.1:p.Pro736Leu | |
| NM_001352773.1:c.2207C>T | NP_001339702.1:p.Pro736Leu | |
| NM_001352774.1:c.2207C>T | NP_001339703.1:p.Pro736Leu | |
| NM_001352775.1:c.2207C>T | NP_001339704.1:p.Pro736Leu | |
| NM_001352776.1:c.2207C>T | NP_001339705.1:p.Pro736Leu | |
| NM_001352777.1:c.2207C>T | NP_001339706.1:p.Pro736Leu | |
| NM_002230.3:c.2207C>T | NP_002221.1:p.Pro736Leu | |
| NM_021991.3:c.2207C>T | NP_068831.1:p.Pro736Leu | |
| XM_006721874.3:c.2207C>T | XP_006721937.1:p.Pro736Leu | |
| XM_011524753.2:c.2207C>T | XP_011523055.1:p.Pro736Leu | |
| XM_017024588.2:c.2258C>T | XP_016880077.1:p.Pro753Leu | |
| XM_017024590.1:c.2207C>T | XP_016880079.1:p.Pro736Leu | |
| NM_002230.4:c.2207C>T MANE Select | NP_002221.1:p.Pro736Leu | |
| NM_001352773.2:c.2207C>T | NP_001339702.1:p.Pro736Leu | |
| NM_001352774.2:c.2207C>T | NP_001339703.1:p.Pro736Leu | |
| NM_001352775.2:c.2207C>T | NP_001339704.1:p.Pro736Leu | |
| NM_001352776.2:c.2207C>T | NP_001339705.1:p.Pro736Leu | |
| NM_001352777.2:c.2207C>T | NP_001339706.1:p.Pro736Leu | |
| NM_021991.4:c.2207C>T | NP_068831.1:p.Pro736Leu |