Linked Data
ClinVar Variation Id:
324114
ClinVar RCV Id:
RCV000275662
RCV000333042
RCV000389869
RCV001080239
RCV000730396
RCV000841032
RCV002278496
dbSNP Id:
rs368316440
ExAC:
17:48273506 C / A
gnomAD v2:
17-48273506-C-A
gnomAD v3:
17-50196145-C-A
gnomAD v4:
17-50196145-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50196145C>A , CM000679.2:g.50196145C>A | GRCh38 |
| NC_000017.10:g.48273506C>A , CM000679.1:g.48273506C>A | GRCh37 |
| NC_000017.9:g.45628505C>A | NCBI36 |
| NG_007400.1:g.10495G>T , LRG_1:g.10495G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.1002+10G>T MANE Select | ENSP00000225964.6:n.1002+10G>T | |
| ENST00000225964.9:c.1002+10G>T | ENSP00000225964.5:n.1002+10G>T | |
| ENST00000485870.1:n.337G>T | ||
| NM_000088.3:c.1002+10G>T , LRG_1t1:c.1002+10G>T | NP_000079.2:n.1002+10G>T | |
| XM_005257058.3:c.1002+10G>T | XP_005257115.2:n.1002+10G>T | |
| XM_005257059.3:c.957+169G>T | XP_005257116.2:n.957+169G>T | |
| XM_011524341.1:c.957+169G>T | XP_011522643.1:n.957+169G>T | |
| XM_005257058.4:c.1002+10G>T | XP_005257115.2:n.1002+10G>T | |
| XM_005257059.4:c.957+169G>T | XP_005257116.2:n.957+169G>T | |
| NM_000088.4:c.1002+10G>T MANE Select | NP_000079.2:n.1002+10G>T |