Linked Data
ClinVar Variation Id:
100279
ClinVar RCV Id:
RCV000086675
RCV000678765
RCV001823113
RCV002247493
RCV002281924
RCV002490753
RCV004549528
dbSNP Id:
rs61749370
ExAC:
12:6128787 G / T
gnomAD v2:
12-6128787-G-T
gnomAD v3:
12-6019621-G-T
gnomAD v4:
12-6019621-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6019621G>T , CM000674.2:g.6019621G>T | GRCh38 |
| NC_000012.11:g.6128787G>T , CM000674.1:g.6128787G>T | GRCh37 |
| NC_000012.10:g.5999048G>T | NCBI36 |
| NG_009072.1:g.110050C>A | |
| NG_009072.2:g.110050C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.3797C>A MANE Select | ENSP00000261405.5:p.Pro1266Gln | |
| ENST00000261405.9:c.3797C>A | ENSP00000261405.5:p.Pro1266Gln | |
| ENST00000538635.5:n.421-25687C>A | ||
| ENST00000539641.1:n.595C>A | ||
| NM_000552.3:c.3797C>A | NP_000543.2:p.Pro1266Gln | |
| NM_000552.4:c.3797C>A | NP_000543.2:p.Pro1266Gln | |
| NM_000552.5:c.3797C>A MANE Select | NP_000543.3:p.Pro1266Gln |