Linked Data
ClinVar Variation Id:
2904571
ClinVar RCV Id:
RCV003760391
dbSNP Id:
rs1157893849
gnomAD v2:
7-92126007-A-C
gnomAD v4:
7-92496693-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92496693A>C , CM000669.2:g.92496693A>C | GRCh38 |
| NC_000007.13:g.92126007A>C , CM000669.1:g.92126007A>C | GRCh37 |
| NC_000007.12:g.91963943A>C | NCBI36 |
| NG_008341.1:g.36839T>G | |
| NG_008341.2:g.36839T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.2783+20T>G MANE Select | ENSP00000248633.4:n.2783+20T>G | |
| ENST00000248633.8:c.2783+20T>G | ENSP00000248633.4:n.2783+20T>G | |
| ENST00000428214.5:c.2612+20T>G | ENSP00000394413.1:n.2612+20T>G | |
| ENST00000438045.5:c.1817+20T>G | ENSP00000410438.1:n.1817+20T>G | |
| ENST00000484913.5:n.2822+20T>G | ||
| ENST00000496420.5:n.2675+20T>G | ||
| NM_000466.2:c.2783+20T>G | NP_000457.1:n.2783+20T>G | |
| NM_001282677.1:c.2612+20T>G | NP_001269606.1:n.2612+20T>G | |
| NM_001282678.1:c.2159+20T>G | NP_001269607.1:n.2159+20T>G | |
| XM_005250433.3:c.1034+20T>G | XP_005250490.1:n.1034+20T>G | |
| XR_242246.3:n.2879+20T>G | ||
| XM_017012319.2:c.1034+20T>G | XP_016867808.1:n.1034+20T>G | |
| XR_001744808.2:n.1810+20T>G | ||
| XR_242246.5:n.2830+20T>G | ||
| NM_000466.3:c.2783+20T>G MANE Select | NP_000457.1:n.2783+20T>G | |
| NM_001282677.2:c.2612+20T>G | NP_001269606.1:n.2612+20T>G | |
| NM_001282678.2:c.2159+20T>G | NP_001269607.1:n.2159+20T>G |