Linked Data
ClinVar Variation Id:
726198
ClinVar RCV Id:
RCV000900380
dbSNP Id:
rs371181652
ExAC:
9:140093916 C / T
gnomAD v2:
9-140093916-C-T
gnomAD v3:
9-137199464-C-T
gnomAD v4:
9-137199464-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137199464C>T , CM000671.2:g.137199464C>T | GRCh38 |
| NC_000009.11:g.140093916C>T , CM000671.1:g.140093916C>T | GRCh37 |
| NC_000009.10:g.139213737C>T | NCBI36 |
| NG_027801.1:g.6248G>A | |
| NG_027801.2:g.9730G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409012.6:c.1248G>A MANE Select | ENSP00000387100.4:p.Pro416= | |
| ENST00000333046.8:c.642G>A | ENSP00000327617.4:p.Pro214= | |
| ENST00000409012.4:c.1248G>A | ENSP00000387100.4:p.Pro416= | |
| ENST00000541945.1:n.90+4640G>A | ||
| NM_001128228.2:c.1248G>A | NP_001121700.2:p.Pro416= | |
| NM_001128228.3:c.1248G>A MANE Select | NP_001121700.2:p.Pro416= |