Linked Data
ClinVar Variation Id:
2096020
ClinVar RCV Id:
RCV003013956
dbSNP Id:
rs1051602658
gnomAD v2:
19-17937587-G-A
gnomAD v3:
19-17826778-G-A
gnomAD v4:
19-17826778-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17826778G>A , CM000681.2:g.17826778G>A | GRCh38 |
| NC_000019.9:g.17937587G>A , CM000681.1:g.17937587G>A | GRCh37 |
| NC_000019.8:g.17798587G>A | NCBI36 |
| NG_007273.1:g.26214C>T , LRG_77:g.26214C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526008.6:c.*1897C>T | ENSP00000513006.1:n.*1897C>T | |
| ENST00000696967.1:n.2517C>T | ||
| ENST00000696968.1:n.573C>T | ||
| ENST00000696969.1:n.2297C>T | ||
| ENST00000458235.7:c.3340C>T MANE Select | ENSP00000391676.1:p.Pro1114Ser | |
| ENST00000458235.5:c.3340C>T | ENSP00000391676.1:p.Pro1114Ser | |
| ENST00000527031.5:n.2279-1468C>T | ||
| ENST00000527670.5:c.3340C>T | ENSP00000432511.1:p.Pro1114Ser | |
| NM_000215.3:c.3340C>T , LRG_77t1:c.3340C>T | NP_000206.2:p.Pro1114Ser | |
| XM_005259896.2:c.3469C>T | XP_005259953.1:p.Pro1157Ser | |
| XM_006722745.2:c.3340C>T | XP_006722808.1:p.Pro1114Ser | |
| XM_005259896.3:c.3469C>T | XP_005259953.1:p.Pro1157Ser | |
| NM_000215.4:c.3340C>T MANE Select | NP_000206.2:p.Pro1114Ser |