Linked Data
ClinVar Variation Id:
1040715
ClinVar RCV Id:
RCV001344404
dbSNP Id:
rs775529885
gnomAD v3:
7-103523450-G-T
gnomAD v4:
7-103523450-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.103523450G>T , CM000669.2:g.103523450G>T | GRCh38 |
| NC_000007.13:g.103163897G>T , CM000669.1:g.103163897G>T | GRCh37 |
| NC_000007.12:g.102951133G>T | NCBI36 |
| NG_011877.1:g.471067C>A | |
| NG_011877.2:g.471067C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424685.3:c.7431C>A | ENSP00000388446.3:p.Ile2477= | |
| ENST00000428762.6:c.7431C>A MANE Select | ENSP00000392423.1:p.Ile2477= | |
| ENST00000478148.2:n.672C>A | ||
| ENST00000679867.1:n.7315C>A | ||
| ENST00000679952.1:n.1359C>A | ||
| ENST00000681034.1:c.7431C>A | ENSP00000506075.1:p.Ile2477= | |
| ENST00000681364.1:n.680C>A | ||
| ENST00000343529.9:c.7431C>A | ENSP00000345694.5:p.Ile2477= | |
| ENST00000424685.2:c.7431C>A | ENSP00000388446.2:p.Ile2477= | |
| ENST00000428762.5:c.7431C>A | ENSP00000392423.1:p.Ile2477= | |
| NM_005045.3:c.7431C>A | NP_005036.2:p.Ile2477= | |
| NM_173054.2:c.7431C>A | NP_774959.1:p.Ile2477= | |
| NM_005045.4:c.7431C>A MANE Select | NP_005036.2:p.Ile2477= | |
| NM_173054.3:c.7431C>A | NP_774959.1:p.Ile2477= |