Linked Data
ClinVar Variation Id:
363147
ClinVar RCV Id:
RCV000346177
RCV001256203
RCV001196774
RCV001240733
RCV001584092
RCV002523685
RCV001700100
dbSNP Id:
rs201346206
ExAC:
8:43046725 C / T
gnomAD v2:
8-43046725-C-T
gnomAD v3:
8-43191582-C-T
gnomAD v4:
8-43191582-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.43191582C>T , CM000670.2:g.43191582C>T | GRCh38 |
| NC_000008.10:g.43046725C>T , CM000670.1:g.43046725C>T | GRCh37 |
| NC_000008.9:g.43165882C>T | NCBI36 |
| NG_009552.1:g.56134C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379644.9:c.1237C>T MANE Select | ENSP00000368965.4:p.Pro413Ser | |
| ENST00000379644.8:c.1237C>T | ENSP00000368965.4:p.Pro413Ser | |
| ENST00000520678.1:n.170C>T | ||
| ENST00000521576.1:c.388C>T | ENSP00000429029.1:p.Pro130Ser | |
| ENST00000522082.5:c.545C>T | ENSP00000430151.1:p.Pro182Leu | |
| ENST00000524016.5:c.341C>T | ||
| NM_152419.2:c.1237C>T | NP_689632.2:p.Pro413Ser | |
| XM_005273409.1:c.1237C>T | XP_005273466.1:p.Pro413Ser | |
| XM_005273410.1:c.1237C>T | XP_005273467.1:p.Pro413Ser | |
| XM_005273411.1:c.1045C>T | XP_005273468.1:p.Pro349Ser | |
| XM_005273412.2:c.1237C>T | XP_005273469.1:p.Pro413Ser | |
| NM_001363227.1:c.1237C>T | NP_001350156.1:p.Pro413Ser | |
| NM_001363228.1:c.1045C>T | NP_001350157.1:p.Pro349Ser | |
| NM_001363229.1:c.373C>T | NP_001350158.1:p.Pro125Ser | |
| XM_005273412.4:c.1237C>T | XP_005273469.1:p.Pro413Ser | |
| NM_152419.3:c.1237C>T MANE Select | NP_689632.2:p.Pro413Ser | |
| NM_001363227.2:c.1237C>T | NP_001350156.1:p.Pro413Ser | |
| NM_001363228.2:c.1045C>T | NP_001350157.1:p.Pro349Ser | |
| NM_001363229.2:c.373C>T | NP_001350158.1:p.Pro125Ser |