Linked Data
ClinVar Variation Id:
874662
ClinVar RCV Id:
RCV001097813
dbSNP Id:
rs376029223
ExAC:
1:173873080 G / A
gnomAD v2:
1-173873080-G-A
gnomAD v3:
1-173903942-G-A
gnomAD v4:
1-173903942-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173903942G>A , CM000663.2:g.173903942G>A | GRCh38 |
| NC_000001.10:g.173873080G>A , CM000663.1:g.173873080G>A | GRCh37 |
| NC_000001.9:g.172139703G>A | NCBI36 |
| NG_012462.1:g.18437C>T , LRG_577:g.18437C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.1342C>T MANE Select | ENSP00000356671.3:p.Pro448Ser | |
| ENST00000367698.3:c.1342C>T | ENSP00000356671.3:p.Pro448Ser | |
| ENST00000617423.4:c.727C>T | ENSP00000478688.1:p.Pro243Ser | |
| NM_000488.3:c.1342C>T , LRG_577t1:c.1342C>T | NP_000479.1:p.Pro448Ser | |
| XM_005245198.2:c.1198C>T | XP_005245255.1:p.Pro400Ser | |
| NM_001365052.1:c.1198C>T | NP_001351981.1:p.Pro400Ser | |
| NM_000488.4:c.1342C>T MANE Select | NP_000479.1:p.Pro448Ser | |
| NM_001365052.2:c.1198C>T | NP_001351981.1:p.Pro400Ser | |
| NM_001386302.1:c.1465C>T | NP_001373231.1:p.Pro489Ser | |
| NM_001386303.1:c.1423C>T | NP_001373232.1:p.Pro475Ser | |
| NM_001386304.1:c.1321C>T | NP_001373233.1:p.Pro441Ser | |
| NM_001386305.1:c.1285C>T | NP_001373234.1:p.Pro429Ser | |
| NM_001386306.1:c.1126C>T | NP_001373235.1:p.Pro376Ser |