Linked Data
ClinVar Variation Id:
770281
ClinVar RCV Id:
RCV000949415
dbSNP Id:
rs181130490
ExAC:
19:2042040 G / A
gnomAD v2:
19-2042040-G-A
gnomAD v3:
19-2042041-G-A
gnomAD v4:
19-2042041-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2042041G>A , CM000681.2:g.2042041G>A | GRCh38 |
| NC_000019.9:g.2042040G>A , CM000681.1:g.2042040G>A | GRCh37 |
| NC_000019.8:g.1993040G>A | NCBI36 |
| NG_029798.1:g.14204C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000250896.9:c.751-7C>T MANE Select | ENSP00000250896.3:n.751-7C>T | |
| ENST00000250896.7:c.751-7C>T | ENSP00000250896.3:n.751-7C>T | |
| ENST00000309340.11:c.751-7C>T | ENSP00000309485.6:n.751-7C>T | |
| ENST00000585667.1:n.465-7C>T | ||
| ENST00000586620.2:n.38C>T | ||
| ENST00000586828.5:c.*404-7C>T | ENSP00000465425.1:n.*404-7C>T | |
| ENST00000587416.5:n.167-7C>T | ||
| ENST00000588014.5:c.124-7C>T | ENSP00000465079.2:n.124-7C>T | |
| ENST00000591142.5:c.-25C>T | ENSP00000465645.1:n.-25C>T | |
| ENST00000591588.1:c.-25C>T | ENSP00000464828.1:n.-25C>T | |
| ENST00000591601.5:c.751-7C>T | ENSP00000467811.1:n.751-7C>T | |
| NM_017572.3:c.751-7C>T | NP_060042.2:n.751-7C>T | |
| NM_199054.2:c.751-7C>T | NP_951009.1:n.751-7C>T | |
| XM_024451471.1:c.886-7C>T | XP_024307239.1:n.886-7C>T | |
| NM_017572.4:c.751-7C>T | NP_060042.2:n.751-7C>T | |
| NM_199054.3:c.751-7C>T MANE Select | NP_951009.1:n.751-7C>T |