Linked Data
ClinVar Variation Id:
358906
ClinVar RCV Id:
RCV000330264
dbSNP Id:
rs149385617
ExAC:
7:130035225 G / A
gnomAD v2:
7-130035225-G-A
gnomAD v3:
7-130395384-G-A
gnomAD v4:
7-130395384-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130395384G>A , CM000669.2:g.130395384G>A | GRCh38 |
| NC_000007.13:g.130035225G>A , CM000669.1:g.130035225G>A | GRCh37 |
| NC_000007.12:g.129822461G>A | NCBI36 |
| NG_032164.1:g.50827C>T | |
| NG_032164.2:g.50827C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000223208.10:c.*3507C>T MANE Select | ENSP00000223208.4:n.*3507C>T | |
| ENST00000541543.6:c.*3507C>T | ENSP00000445888.2:n.*3507C>T | |
| ENST00000675649.1:c.*3507C>T | ENSP00000502385.1:n.*3507C>T | |
| ENST00000223208.9:c.*3507C>T | ENSP00000223208.4:n.*3507C>T | |
| ENST00000541543.5:c.*3507C>T | ENSP00000445888.1:n.*3507C>T | |
| NM_001257158.1:c.*3507C>T | NP_001244087.1:n.*3507C>T | |
| NM_001257159.1:c.*3507C>T | NP_001244088.1:n.*3507C>T | |
| NM_018718.2:c.*3507C>T | NP_061188.1:n.*3507C>T | |
| NR_046443.1:n.4797C>T | ||
| NM_018718.3:c.*3507C>T MANE Select | NP_061188.1:n.*3507C>T | |
| NM_001257158.2:c.*3507C>T | NP_001244087.1:n.*3507C>T | |
| NR_046443.2:n.4603C>T | ||
| NM_001257159.2:c.*3507C>T | NP_001244088.1:n.*3507C>T |