Linked Data
ClinVar Variation Id:
314
ClinVar RCV Id:
RCV000000342
RCV000086676
RCV000314989
RCV000853236
RCV002247228
RCV003313771
RCV004547449
dbSNP Id:
rs61749370
ExAC:
12:6128787 G / A
gnomAD v2:
12-6128787-G-A
gnomAD v3:
12-6019621-G-A
gnomAD v4:
12-6019621-G-A
COSMIC:
COSM3968366
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6019621G>A , CM000674.2:g.6019621G>A | GRCh38 |
| NC_000012.11:g.6128787G>A , CM000674.1:g.6128787G>A | GRCh37 |
| NC_000012.10:g.5999048G>A | NCBI36 |
| NG_009072.1:g.110050C>T | |
| NG_009072.2:g.110050C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.3797C>T MANE Select | ENSP00000261405.5:p.Pro1266Leu | |
| ENST00000261405.9:c.3797C>T | ENSP00000261405.5:p.Pro1266Leu | |
| ENST00000538635.5:n.421-25687C>T | ||
| ENST00000539641.1:n.595C>T | ||
| NM_000552.3:c.3797C>T | NP_000543.2:p.Pro1266Leu | |
| NM_000552.4:c.3797C>T | NP_000543.2:p.Pro1266Leu | |
| NM_000552.5:c.3797C>T MANE Select | NP_000543.3:p.Pro1266Leu |