Linked Data
ClinVar Variation Id:
1252273
ClinVar RCV Id:
RCV001658574
dbSNP Id:
rs1030868
gnomAD v2:
16-55516767-G-A
gnomAD v3:
16-55482855-G-A
gnomAD v4:
16-55482855-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.55482855G>A , CM000678.2:g.55482855G>A | GRCh38 |
| NC_000016.9:g.55516767G>A , CM000678.1:g.55516767G>A | GRCh37 |
| NC_000016.8:g.54074268G>A | NCBI36 |
| NG_008989.1:g.8687G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000219070.9:c.154-54G>A MANE Select | ENSP00000219070.4:n.154-54G>A | |
| ENST00000219070.8:c.154-54G>A | ENSP00000219070.4:n.154-54G>A | |
| ENST00000437642.6:c.4-54G>A | ENSP00000394237.2:n.4-54G>A | |
| ENST00000543485.5:c.-75-54G>A | ENSP00000444143.1:n.-75-54G>A | |
| ENST00000564864.5:c.-75-54G>A | ENSP00000456096.1:n.-75-54G>A | |
| ENST00000568715.5:c.-75-54G>A | ENSP00000457949.1:n.-75-54G>A | |
| ENST00000570308.5:c.-75-54G>A | ENSP00000461421.1:n.-75-54G>A | |
| NM_001127891.2:c.4-54G>A | NP_001121363.1:n.4-54G>A | |
| NM_001302508.1:c.-75-54G>A | NP_001289437.1:n.-75-54G>A | |
| NM_001302509.1:c.-75-54G>A | NP_001289438.1:n.-75-54G>A | |
| NM_001302510.1:c.-75-54G>A | NP_001289439.1:n.-75-54G>A | |
| NM_004530.5:c.154-54G>A | NP_004521.1:n.154-54G>A | |
| NM_004530.6:c.154-54G>A MANE Select | NP_004521.1:n.154-54G>A | |
| NM_001127891.3:c.4-54G>A | NP_001121363.1:n.4-54G>A | |
| NM_001302509.2:c.-75-54G>A | NP_001289438.1:n.-75-54G>A | |
| NM_001302510.2:c.-75-54G>A | NP_001289439.1:n.-75-54G>A |