Linked Data
ClinVar Variation Id:
280860
ClinVar RCV Id:
RCV000264586
dbSNP Id:
rs886041991
gnomAD v4:
7-147562179-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147562179C>T , CM000669.2:g.147562179C>T | GRCh38 |
| NC_000007.13:g.147259271C>T , CM000669.1:g.147259271C>T | GRCh37 |
| NC_000007.12:g.146890204C>T | NCBI36 |
| NG_007092.2:g.1450819C>T | |
| NG_007092.3:g.1451179C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361727.8:c.1819C>T MANE Select | ENSP00000354778.3:p.Gln607Ter | |
| ENST00000636870.1:n.1681C>T | ||
| ENST00000637825.1:n.1302C>T | ||
| ENST00000638117.1:n.1722C>T | ||
| ENST00000361727.7:c.1819C>T | ENSP00000354778.3:p.Gln607Ter | |
| NM_014141.5:c.1819C>T | NP_054860.1:p.Gln607Ter | |
| XM_006715919.1:c.307C>T | XP_006715982.1:p.Gln103Ter | |
| XM_017011950.2:c.1819C>T | XP_016867439.1:p.Gln607Ter | |
| NM_014141.6:c.1819C>T MANE Select | NP_054860.1:p.Gln607Ter |