Linked Data
ClinVar Variation Id:
1066706
ClinVar RCV Id:
RCV001377779
dbSNP Id:
rs2102782517
gnomAD v4:
1-173909648-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909648G>A , CM000663.2:g.173909648G>A | GRCh38 |
| NC_000001.10:g.173878786G>A , CM000663.1:g.173878786G>A | GRCh37 |
| NC_000001.9:g.172145409G>A | NCBI36 |
| NG_012462.1:g.12731C>T , LRG_577:g.12731C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367698.4:c.1057C>T MANE Select | ENSP00000356671.3:p.Pro353Ser | |
| ENST00000367698.3:c.1057C>T | ENSP00000356671.3:p.Pro353Ser | |
| ENST00000617423.4:c.560-2155C>T | ENSP00000478688.1:n.560-2155C>T | |
| NM_000488.3:c.1057C>T , LRG_577t1:c.1057C>T | NP_000479.1:p.Pro353Ser | |
| XM_005245198.2:c.913C>T | XP_005245255.1:p.Pro305Ser | |
| NM_001365052.1:c.913C>T | NP_001351981.1:p.Pro305Ser | |
| NM_000488.4:c.1057C>T MANE Select | NP_000479.1:p.Pro353Ser | |
| NM_001365052.2:c.913C>T | NP_001351981.1:p.Pro305Ser | |
| NM_001386302.1:c.1180C>T | NP_001373231.1:p.Pro394Ser | |
| NM_001386303.1:c.1138C>T | NP_001373232.1:p.Pro380Ser | |
| NM_001386304.1:c.1036C>T | NP_001373233.1:p.Pro346Ser | |
| NM_001386305.1:c.1000C>T | NP_001373234.1:p.Pro334Ser | |
| NM_001386306.1:c.841C>T | NP_001373235.1:p.Pro281Ser |