Linked Data
ClinVar Variation Id:
216835
dbSNP Id:
rs147826200
ExAC:
19:40900763 G / A
gnomAD v2:
19-40900763-G-A
gnomAD v3:
19-40394856-G-A
gnomAD v4:
19-40394856-G-A
PubMed:
PMID:25164601
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40394856G>A , CM000681.2:g.40394856G>A | GRCh38 |
| NC_000019.9:g.40900763G>A , CM000681.1:g.40900763G>A | GRCh37 |
| NC_000019.8:g.45592603G>A | NCBI36 |
| NG_007979.1:g.23509C>T , LRG_265:g.23509C>T | |
| NG_051224.1:g.366C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324001.8:c.3496C>T MANE Select | ENSP00000326018.6:p.Pro1166Ser | |
| ENST00000673881.1:c.3079C>T | ENSP00000501070.1:p.Pro1027Ser | |
| ENST00000674005.2:c.3781C>T | ENSP00000501261.1:p.Pro1261Ser | |
| ENST00000674773.1:c.3079C>T | ENSP00000502579.1:p.Pro1027Ser | |
| ENST00000675517.1:c.3371C>T | ||
| ENST00000676076.1:c.3357C>T | ||
| ENST00000676260.1:c.3458C>T | ||
| ENST00000676316.1:c.3383C>T | ||
| ENST00000291825.11:c.*3701C>T | ENSP00000291825.6:n.*3701C>T | |
| ENST00000324001.7:c.3496C>T | ENSP00000326018.6:p.Pro1166Ser | |
| NM_020956.2:c.*3701C>T , LRG_265t1:c.*3701C>T | NP_066007.1:n.*3701C>T | |
| NM_181882.2:c.3496C>T , LRG_265t2:c.3496C>T | NP_870998.2:p.Pro1166Ser | |
| XM_011527171.1:c.3496C>T | XP_011525473.1:p.Pro1166Ser | |
| XM_011527171.2:c.3496C>T | XP_011525473.1:p.Pro1166Ser | |
| XM_017027046.1:c.3394C>T | XP_016882535.1:p.Pro1132Ser | |
| XM_017027047.1:c.3394C>T | XP_016882536.1:p.Pro1132Ser | |
| NM_181882.3:c.3496C>T MANE Select | NP_870998.2:p.Pro1166Ser |