Linked Data
dbSNP Id:
rs768091337
ExAC:
17:48271420 G / C
gnomAD v2:
17-48271420-G-C
gnomAD v4:
17-50194059-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50194059G>C , CM000679.2:g.50194059G>C | GRCh38 |
| NC_000017.10:g.48271420G>C , CM000679.1:g.48271420G>C | GRCh37 |
| NC_000017.9:g.45626419G>C | NCBI36 |
| NG_007400.1:g.12581C>G , LRG_1:g.12581C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.1669-18C>G MANE Select | ENSP00000225964.6:n.1669-18C>G | |
| ENST00000225964.9:c.1669-18C>G | ENSP00000225964.5:n.1669-18C>G | |
| ENST00000463440.1:n.59-18C>G | ||
| ENST00000471344.1:n.683C>G | ||
| NM_000088.3:c.1669-18C>G , LRG_1t1:c.1669-18C>G | NP_000079.2:n.1669-18C>G | |
| XM_005257058.3:c.1669-18C>G | XP_005257115.2:n.1669-18C>G | |
| XM_005257059.3:c.958-1366C>G | XP_005257116.2:n.958-1366C>G | |
| XM_011524341.1:c.1471-18C>G | XP_011522643.1:n.1471-18C>G | |
| XM_005257058.4:c.1669-18C>G | XP_005257115.2:n.1669-18C>G | |
| XM_005257059.4:c.958-1366C>G | XP_005257116.2:n.958-1366C>G | |
| NM_000088.4:c.1669-18C>G MANE Select | NP_000079.2:n.1669-18C>G |