Linked Data
ClinVar Variation Id:
1199046
ClinVar RCV Id:
RCV001563407
dbSNP Id:
rs146437238
ExAC:
9:140093905 G / A
gnomAD v2:
9-140093905-G-A
gnomAD v3:
9-137199453-G-A
gnomAD v4:
9-137199453-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137199453G>A , CM000671.2:g.137199453G>A | GRCh38 |
| NC_000009.11:g.140093905G>A , CM000671.1:g.140093905G>A | GRCh37 |
| NC_000009.10:g.139213726G>A | NCBI36 |
| NG_027801.1:g.6259C>T | |
| NG_027801.2:g.9741C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409012.6:c.1259C>T MANE Select | ENSP00000387100.4:p.Pro420Leu | |
| ENST00000333046.8:c.653C>T | ENSP00000327617.4:p.Pro218Leu | |
| ENST00000409012.4:c.1259C>T | ENSP00000387100.4:p.Pro420Leu | |
| ENST00000541945.1:n.90+4651C>T | ||
| NM_001128228.2:c.1259C>T | NP_001121700.2:p.Pro420Leu | |
| NM_001128228.3:c.1259C>T MANE Select | NP_001121700.2:p.Pro420Leu |