Linked Data
ClinVar Variation Id:
1108378
ClinVar RCV Id:
RCV001433851
dbSNP Id:
rs2144565853
gnomAD v4:
17-50193056-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50193056A>G , CM000679.2:g.50193056A>G | GRCh38 |
| NC_000017.10:g.48270417A>G , CM000679.1:g.48270417A>G | GRCh37 |
| NC_000017.9:g.45625416A>G | NCBI36 |
| NG_007400.1:g.13584T>C , LRG_1:g.13584T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.1768-9T>C MANE Select | ENSP00000225964.6:n.1768-9T>C | |
| ENST00000225964.9:c.1768-9T>C | ENSP00000225964.5:n.1768-9T>C | |
| ENST00000476387.1:n.117-9T>C | ||
| NM_000088.3:c.1768-9T>C , LRG_1t1:c.1768-9T>C | NP_000079.2:n.1768-9T>C | |
| XM_005257058.3:c.1768-9T>C | XP_005257115.2:n.1768-9T>C | |
| XM_005257059.3:c.958-363T>C | XP_005257116.2:n.958-363T>C | |
| XM_011524341.1:c.1570-9T>C | XP_011522643.1:n.1570-9T>C | |
| XM_005257058.4:c.1768-9T>C | XP_005257115.2:n.1768-9T>C | |
| XM_005257059.4:c.958-363T>C | XP_005257116.2:n.958-363T>C | |
| NM_000088.4:c.1768-9T>C MANE Select | NP_000079.2:n.1768-9T>C |