Linked Data
ClinVar Variation Id:
1230661
ClinVar RCV Id:
RCV001616708
dbSNP Id:
rs73986420
ExAC:
17:42985637 G / A
gnomAD v2:
17-42985637-G-A
gnomAD v3:
17-44908269-G-A
gnomAD v4:
17-44908269-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44908269G>A , CM000679.2:g.44908269G>A | GRCh38 |
| NC_000017.10:g.42985637G>A , CM000679.1:g.42985637G>A | GRCh37 |
| NC_000017.9:g.40341163G>A | NCBI36 |
| NG_008401.1:g.12278C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253408.11:c.1292-120C>T | ENSP00000253408.5:n.1292-120C>T | |
| ENST00000253408.10:c.1292-120C>T | ENSP00000253408.5:n.1292-120C>T | |
| ENST00000441312.2:n.25-120C>T | ||
| ENST00000585543.6:n.325-120C>T | ||
| ENST00000586125.2:c.107-120C>T | ENSP00000467397.2:n.107-120C>T | |
| ENST00000588735.3:c.1172-120C>T MANE Select | ENSP00000466598.2:n.1172-120C>T | |
| ENST00000589701.2:n.1959C>T | ||
| ENST00000591880.2:c.271-120C>T | ||
| ENST00000592065.2:n.420C>T | ||
| ENST00000638304.1:c.91-120C>T | ||
| ENST00000638400.1:c.7-120C>T | ||
| ENST00000638488.1:n.636-120C>T | ||
| ENST00000638618.1:c.827-120C>T | ENSP00000492832.1:n.827-120C>T | |
| ENST00000639042.1:c.144-120C>T | ||
| ENST00000639277.1:c.1172-120C>T | ENSP00000492432.1:n.1172-120C>T | |
| ENST00000639369.1:c.22-120C>T | ||
| ENST00000640552.1:n.3531C>T | ||
| ENST00000253408.9:c.1172-120C>T | ENSP00000253408.4:n.1172-120C>T | |
| ENST00000585543.5:n.325-120C>T | ||
| ENST00000586125.1:c.143-120C>T | ENSP00000467397.1:n.143-120C>T | |
| ENST00000588640.5:n.552-120C>T | ||
| ENST00000588735.1:c.83-153C>T | ENSP00000466598.1:n.83-153C>T | |
| ENST00000591880.1:c.38-120C>T | ENSP00000467530.1:n.38-120C>T | |
| ENST00000592706.5:n.44-120C>T | ||
| NM_002055.4:c.1172-120C>T | NP_002046.1:n.1172-120C>T | |
| NM_001363846.1:c.1292-120C>T | NP_001350775.1:n.1292-120C>T | |
| XM_024450690.1:c.1496-120C>T | XP_024306458.1:n.1496-120C>T | |
| XM_024450692.1:c.1376-120C>T | XP_024306460.1:n.1376-120C>T | |
| NM_002055.5:c.1172-120C>T MANE Select | NP_002046.1:n.1172-120C>T | |
| NM_001242376.2:c.*2200C>T | NP_001229305.1:n.*2200C>T | |
| NM_001363846.2:c.1292-120C>T | NP_001350775.1:n.1292-120C>T |