Linked Data
ClinVar Variation Id:
2896438
ClinVar RCV Id:
RCV003730945
dbSNP Id:
rs1231011619
gnomAD v2:
2-223066875-G-A
gnomAD v4:
2-222202156-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.222202156G>A , CM000664.2:g.222202156G>A | GRCh38 |
| NC_000002.11:g.223066875G>A , CM000664.1:g.223066875G>A | GRCh37 |
| NC_000002.10:g.222775119G>A | NCBI36 |
| NG_011632.1:g.101826C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336840.11:c.1174-714C>T | ENSP00000338767.5:n.1174-714C>T | |
| ENST00000344493.9:c.1174-714C>T | ENSP00000342092.4:n.1174-714C>T | |
| ENST00000350526.9:c.1208C>T | ENSP00000343052.4:p.Pro403Leu | |
| ENST00000392070.7:c.1208C>T MANE Select | ENSP00000375922.3:p.Pro403Leu | |
| ENST00000464706.6:n.646C>T | ||
| ENST00000644699.1:n.534C>T | ||
| ENST00000646154.1:n.1022C>T | ||
| ENST00000336840.10:c.1174-714C>T | ENSP00000338767.5:n.1174-714C>T | |
| ENST00000344493.8:c.1174-714C>T | ENSP00000342092.4:n.1174-714C>T | |
| ENST00000350526.8:c.1208C>T | ENSP00000343052.4:p.Pro403Leu | |
| ENST00000392069.6:c.1208C>T | ENSP00000375921.2:p.Pro403Leu | |
| ENST00000392070.6:c.1208C>T | ENSP00000375922.2:p.Pro403Leu | |
| ENST00000409551.7:c.1205C>T | ENSP00000386750.3:p.Pro402Leu | |
| ENST00000464706.5:n.632C>T | ||
| ENST00000555548.1:n.439C>T | ||
| NM_001127366.2:c.1205C>T | NP_001120838.1:p.Pro402Leu | |
| NM_181457.3:c.1208C>T | NP_852122.1:p.Pro403Leu | |
| NM_181458.3:c.1208C>T | NP_852123.1:p.Pro403Leu | |
| NM_181459.3:c.1208C>T | NP_852124.1:p.Pro403Leu | |
| NM_181460.3:c.1174-714C>T | NP_852125.1:n.1174-714C>T | |
| NM_181461.3:c.1174-714C>T | NP_852126.1:n.1174-714C>T | |
| XM_011511278.1:c.1352C>T | XP_011509580.1:p.Pro451Leu | |
| XM_011511279.1:c.644C>T | XP_011509581.1:p.Pro215Leu | |
| NM_001127366.3:c.1205C>T | NP_001120838.1:p.Pro402Leu | |
| NM_181457.4:c.1208C>T | NP_852122.1:p.Pro403Leu | |
| NM_181458.4:c.1208C>T MANE Select | NP_852123.1:p.Pro403Leu | |
| NM_181459.4:c.1208C>T | NP_852124.1:p.Pro403Leu | |
| NM_181460.4:c.1174-714C>T | NP_852125.1:n.1174-714C>T | |
| NM_181461.4:c.1174-714C>T | NP_852126.1:n.1174-714C>T |