Linked Data
ClinVar Variation Id:
502524
dbSNP Id:
rs376824422
gnomAD v2:
6-42946482-G-T
gnomAD v3:
6-42978744-G-T
gnomAD v4:
6-42978744-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42978744G>T , CM000668.2:g.42978744G>T | GRCh38 |
| NC_000006.11:g.42946482G>T , CM000668.1:g.42946482G>T | GRCh37 |
| NC_000006.10:g.43054460G>T | NCBI36 |
| NG_008370.1:g.5500C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304611.13:c.407C>A MANE Select | ENSP00000303511.8:p.Pro136Gln | |
| ENST00000244546.4:c.407C>A | ENSP00000244546.4:p.Pro136Gln | |
| ENST00000304611.12:c.407C>A | ENSP00000303511.8:p.Pro136Gln | |
| NM_000287.3:c.407C>A | NP_000278.3:p.Pro136Gln | |
| NM_001316313.1:c.407C>A | NP_001303242.1:p.Pro136Gln | |
| NR_133009.1:n.500C>A | ||
| XM_011514661.1:c.407C>A | XP_011512963.1:p.Pro136Gln | |
| XR_926246.1:n.500C>A | ||
| XM_011514661.2:c.407C>A | XP_011512963.1:p.Pro136Gln | |
| XR_001743466.2:n.1481C>A | ||
| NM_000287.4:c.407C>A MANE Select | NP_000278.3:p.Pro136Gln | |
| NM_001316313.2:c.407C>A | NP_001303242.1:p.Pro136Gln | |
| NR_133009.2:n.438C>A |