Linked Data
dbSNP Id:
rs755251092
ExAC:
10:120907267 G / C
gnomAD v2:
10-120907267-G-C
gnomAD v4:
10-119147755-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119147755G>C , CM000672.2:g.119147755G>C | GRCh38 |
| NC_000010.10:g.120907267G>C , CM000672.1:g.120907267G>C | GRCh37 |
| NC_000010.9:g.120897257G>C | NCBI36 |
| NG_033895.1:g.22938C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355697.7:c.818+20C>G MANE Select | ENSP00000347924.2:n.818+20C>G | |
| ENST00000355697.6:c.818+20C>G | ENSP00000347924.2:n.818+20C>G | |
| ENST00000369131.8:c.470+20C>G | ENSP00000358127.4:n.470+20C>G | |
| ENST00000461438.5:n.847+20C>G | ||
| ENST00000484960.5:n.148+20C>G | ||
| ENST00000490417.6:n.281+20C>G | ||
| NM_213649.1:c.818+20C>G | NP_998814.1:n.818+20C>G | |
| NR_110305.1:n.836+20C>G | ||
| XM_005269525.3:c.791+20C>G | XP_005269582.1:n.791+20C>G | |
| XM_005269526.1:c.470+20C>G | XP_005269583.1:n.470+20C>G | |
| XM_005269527.1:c.470+20C>G | XP_005269584.1:n.470+20C>G | |
| XM_011539282.1:c.470+20C>G | XP_011537584.1:n.470+20C>G | |
| XR_945603.1:n.880+20C>G | ||
| XM_005269525.5:c.791+20C>G | XP_005269582.1:n.791+20C>G | |
| XM_005269526.2:c.470+20C>G | XP_005269583.1:n.470+20C>G | |
| XM_011539282.2:c.470+20C>G | XP_011537584.1:n.470+20C>G | |
| XM_024447793.1:c.470+20C>G | XP_024303561.1:n.470+20C>G | |
| XR_001747022.1:n.1069+20C>G | ||
| XR_001747023.1:n.963+20C>G | ||
| XR_945603.3:n.899+20C>G | ||
| NM_213649.2:c.818+20C>G MANE Select | NP_998814.1:n.818+20C>G |