Linked Data
ClinVar Variation Id:
370533
ClinVar RCV Id:
RCV000409941
dbSNP Id:
rs1057516565
gnomAD v4:
4-177442248-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177442248C>T , CM000666.2:g.177442248C>T | GRCh38 |
| NC_000004.11:g.178363402C>T , CM000666.1:g.178363402C>T | GRCh37 |
| NC_000004.10:g.178600396C>T | NCBI36 |
| NG_011845.2:g.5256G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264595.7:c.127+1G>A MANE Select | ENSP00000264595.2:n.127+1G>A | |
| ENST00000264595.6:c.127+1G>A | ENSP00000264595.2:n.127+1G>A | |
| ENST00000506853.5:n.161+1G>A | ||
| ENST00000510955.5:n.161+1G>A | ||
| ENST00000511231.1:n.161+1G>A | ||
| NM_000027.3:c.127+1G>A | NP_000018.2:n.127+1G>A | |
| NM_001171988.1:c.127+1G>A | NP_001165459.1:n.127+1G>A | |
| NR_033655.1:n.255+1G>A | ||
| XM_006714123.2:c.127+1G>A | XP_006714186.1:n.127+1G>A | |
| XR_001741155.2:n.221+1G>A | ||
| NM_000027.4:c.127+1G>A MANE Select | NP_000018.2:n.127+1G>A | |
| NM_001171988.2:c.127+1G>A | NP_001165459.1:n.127+1G>A | |
| NR_033655.2:n.189+1G>A |