Linked Data
ClinVar Variation Id:
2167720
ClinVar RCV Id:
RCV003092193
dbSNP Id:
rs1162440051
gnomAD v2:
7-100224534-G-A
gnomAD v4:
7-100626911-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100626911G>A , CM000669.2:g.100626911G>A | GRCh38 |
| NC_000007.13:g.100224534G>A , CM000669.1:g.100224534G>A | GRCh37 |
| NC_000007.12:g.100062470G>A | NCBI36 |
| NG_007989.1:g.19640C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223051.8:c.1996-8C>T MANE Select | ENSP00000223051.3:n.1996-8C>T | |
| ENST00000223051.7:c.1996-8C>T | ENSP00000223051.3:n.1996-8C>T | |
| ENST00000431692.5:c.*671-8C>T | ENSP00000413905.1:n.*671-8C>T | |
| ENST00000461176.1:n.342-8C>T | ||
| ENST00000462090.5:n.1032-8C>T | ||
| ENST00000462107.1:c.1996-8C>T | ENSP00000420525.1:n.1996-8C>T | |
| ENST00000465294.5:n.1916-8C>T | ||
| ENST00000476304.5:n.1617-8C>T | ||
| ENST00000490084.5:c.1349-8C>T | ||
| NM_001206855.1:c.1483-8C>T | NP_001193784.1:n.1483-8C>T | |
| NM_003227.3:c.1996-8C>T | NP_003218.2:n.1996-8C>T | |
| XM_005250553.3:c.1996-8C>T | XP_005250610.1:n.1996-8C>T | |
| XM_005250554.3:c.1996-8C>T | XP_005250611.1:n.1996-8C>T | |
| XR_927814.1:n.434-4245G>A | ||
| NM_001206855.2:c.1483-8C>T | NP_001193784.1:n.1483-8C>T | |
| XM_005250553.4:c.1996-8C>T | XP_005250610.1:n.1996-8C>T | |
| XM_017012573.1:c.1996-8C>T | XP_016868062.1:n.1996-8C>T | |
| NM_003227.4:c.1996-8C>T MANE Select | NP_003218.2:n.1996-8C>T | |
| NM_001206855.3:c.1483-8C>T | NP_001193784.1:n.1483-8C>T |