Linked Data
dbSNP Id:
rs757762337
ExAC:
17:48271497 G / C
gnomAD v2:
17-48271497-G-C
gnomAD v4:
17-50194136-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50194136G>C , CM000679.2:g.50194136G>C | GRCh38 |
| NC_000017.10:g.48271497G>C , CM000679.1:g.48271497G>C | GRCh37 |
| NC_000017.9:g.45626496G>C | NCBI36 |
| NG_007400.1:g.12504C>G , LRG_1:g.12504C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.1662C>G MANE Select | ENSP00000225964.6:p.Gly554= | |
| ENST00000225964.9:c.1662C>G | ENSP00000225964.5:p.Gly554= | |
| ENST00000463440.1:n.52C>G | ||
| ENST00000471344.1:n.606C>G | ||
| NM_000088.3:c.1662C>G , LRG_1t1:c.1662C>G | NP_000079.2:p.Gly554= | |
| XM_005257058.3:c.1662C>G | XP_005257115.2:p.Gly554= | |
| XM_005257059.3:c.958-1443C>G | XP_005257116.2:n.958-1443C>G | |
| XM_011524341.1:c.1464C>G | XP_011522643.1:p.Gly488= | |
| XM_005257058.4:c.1662C>G | XP_005257115.2:p.Gly554= | |
| XM_005257059.4:c.958-1443C>G | XP_005257116.2:n.958-1443C>G | |
| NM_000088.4:c.1662C>G MANE Select | NP_000079.2:p.Gly554= |