Linked Data
ClinVar Variation Id:
663440
ClinVar RCV Id:
RCV000821307
dbSNP Id:
rs1463490551
gnomAD v2:
19-40902125-G-A
gnomAD v4:
19-40396218-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40396218G>A , CM000681.2:g.40396218G>A | GRCh38 |
| NC_000019.9:g.40902125G>A , CM000681.1:g.40902125G>A | GRCh37 |
| NC_000019.8:g.45593965G>A | NCBI36 |
| NG_007979.1:g.22147C>T , LRG_265:g.22147C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324001.8:c.2134C>T MANE Select | ENSP00000326018.6:p.Pro712Ser | |
| ENST00000673881.1:c.1717C>T | ENSP00000501070.1:p.Pro573Ser | |
| ENST00000674005.2:c.2419C>T | ENSP00000501261.1:p.Pro807Ser | |
| ENST00000674773.1:c.1717C>T | ENSP00000502579.1:p.Pro573Ser | |
| ENST00000675517.1:c.2009C>T | ||
| ENST00000676076.1:c.1995C>T | ||
| ENST00000676260.1:c.2096C>T | ||
| ENST00000676316.1:c.2021C>T | ||
| ENST00000291825.11:c.*2339C>T | ENSP00000291825.6:n.*2339C>T | |
| ENST00000324001.7:c.2134C>T | ENSP00000326018.6:p.Pro712Ser | |
| NM_020956.2:c.*2339C>T , LRG_265t1:c.*2339C>T | NP_066007.1:n.*2339C>T | |
| NM_181882.2:c.2134C>T , LRG_265t2:c.2134C>T | NP_870998.2:p.Pro712Ser | |
| XM_011527171.1:c.2134C>T | XP_011525473.1:p.Pro712Ser | |
| XM_011527171.2:c.2134C>T | XP_011525473.1:p.Pro712Ser | |
| XM_017027046.1:c.2032C>T | XP_016882535.1:p.Pro678Ser | |
| XM_017027047.1:c.2032C>T | XP_016882536.1:p.Pro678Ser | |
| NM_181882.3:c.2134C>T MANE Select | NP_870998.2:p.Pro712Ser |