Linked Data
ClinVar Variation Id:
840904
ClinVar RCV Id:
RCV001043017
dbSNP Id:
rs1223885282
gnomAD v2:
19-17940924-G-A
gnomAD v3:
19-17830115-G-A
gnomAD v4:
19-17830115-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17830115G>A , CM000681.2:g.17830115G>A | GRCh38 |
| NC_000019.9:g.17940924G>A , CM000681.1:g.17940924G>A | GRCh37 |
| NC_000019.8:g.17801924G>A | NCBI36 |
| NG_007273.1:g.22877C>T , LRG_77:g.22877C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526008.6:c.*1757C>T | ENSP00000513006.1:n.*1757C>T | |
| ENST00000696967.1:n.2377C>T | ||
| ENST00000696968.1:n.433C>T | ||
| ENST00000696969.1:n.2157C>T | ||
| ENST00000458235.7:c.3200C>T MANE Select | ENSP00000391676.1:p.Pro1067Leu | |
| ENST00000458235.5:c.3200C>T | ENSP00000391676.1:p.Pro1067Leu | |
| ENST00000527031.5:n.2279-4805C>T | ||
| ENST00000527670.5:c.3200C>T | ENSP00000432511.1:p.Pro1067Leu | |
| ENST00000534444.1:c.3200C>T | ENSP00000436421.1:p.Pro1067Leu | |
| NM_000215.3:c.3200C>T , LRG_77t1:c.3200C>T | NP_000206.2:p.Pro1067Leu | |
| XM_005259896.2:c.3329C>T | XP_005259953.1:p.Pro1110Leu | |
| XM_006722745.2:c.3200C>T | XP_006722808.1:p.Pro1067Leu | |
| XM_005259896.3:c.3329C>T | XP_005259953.1:p.Pro1110Leu | |
| NM_000215.4:c.3200C>T MANE Select | NP_000206.2:p.Pro1067Leu |