Linked Data
dbSNP Id:
rs773572267
ExAC:
1:2337873 G / C
gnomAD v2:
1-2337873-G-C
gnomAD v4:
1-2406434-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2406434G>C , CM000663.2:g.2406434G>C | GRCh38 |
| NC_000001.10:g.2337873G>C , CM000663.1:g.2337873G>C | GRCh37 |
| NC_000001.9:g.2327733G>C | NCBI36 |
| NG_008342.1:g.11138C>G | |
| NG_016128.1:g.19660G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288774.8:c.972+50C>G | ENSP00000288774.3:n.972+50C>G | |
| ENST00000447513.7:c.912+50C>G MANE Select | ENSP00000407922.2:n.912+50C>G | |
| ENST00000650293.1:c.866+50C>G | ||
| ENST00000288774.7:c.972+50C>G | ENSP00000288774.3:n.972+50C>G | |
| ENST00000447513.6:c.912+50C>G | ENSP00000407922.2:n.912+50C>G | |
| ENST00000507596.5:c.912+50C>G | ENSP00000424291.1:n.912+50C>G | |
| NM_002617.3:c.912+50C>G | NP_002608.1:n.912+50C>G | |
| NM_153818.1:c.972+50C>G | NP_722540.1:n.972+50C>G | |
| XM_011541573.1:c.969+50C>G | XP_011539875.1:n.969+50C>G | |
| XM_011541574.1:c.537+50C>G | XP_011539876.1:n.537+50C>G | |
| XM_011541575.1:c.537+50C>G | XP_011539877.1:n.537+50C>G | |
| XR_946666.1:n.1028+50C>G | ||
| XR_946666.2:n.977+50C>G | ||
| NM_001374425.1:c.969+50C>G | NP_001361354.1:n.969+50C>G | |
| NM_001374426.1:c.537+50C>G | NP_001361355.1:n.537+50C>G | |
| NM_001374427.1:c.480+50C>G | NP_001361356.1:n.480+50C>G | |
| NM_002617.4:c.912+50C>G MANE Select | NP_002608.1:n.912+50C>G | |
| NM_153818.2:c.972+50C>G | NP_722540.1:n.972+50C>G | |
| NR_164636.1:n.1027+50C>G |