Linked Data
ClinVar Variation Id:
2042730
ClinVar RCV Id:
RCV002908148
dbSNP Id:
rs748197505
ExAC:
17:48273315 G / A
gnomAD v2:
17-48273315-G-A
gnomAD v3:
17-50195954-G-A
gnomAD v4:
17-50195954-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50195954G>A , CM000679.2:g.50195954G>A | GRCh38 |
| NC_000017.10:g.48273315G>A , CM000679.1:g.48273315G>A | GRCh37 |
| NC_000017.9:g.45628314G>A | NCBI36 |
| NG_007400.1:g.10686C>T , LRG_1:g.10686C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.1025C>T MANE Select | ENSP00000225964.6:p.Pro342Leu | |
| ENST00000225964.9:c.1025C>T | ENSP00000225964.5:p.Pro342Leu | |
| NM_000088.3:c.1025C>T , LRG_1t1:c.1025C>T | NP_000079.2:p.Pro342Leu | |
| XM_005257058.3:c.1025C>T | XP_005257115.2:p.Pro342Leu | |
| XM_005257059.3:c.957+360C>T | XP_005257116.2:n.957+360C>T | |
| XM_011524341.1:c.957+360C>T | XP_011522643.1:n.957+360C>T | |
| XM_005257058.4:c.1025C>T | XP_005257115.2:p.Pro342Leu | |
| XM_005257059.4:c.957+360C>T | XP_005257116.2:n.957+360C>T | |
| NM_000088.4:c.1025C>T MANE Select | NP_000079.2:p.Pro342Leu |