Linked Data
dbSNP Id:
rs747082115
ExAC:
10:120907276 G / A
gnomAD v2:
10-120907276-G-A
gnomAD v3:
10-119147764-G-A
gnomAD v4:
10-119147764-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119147764G>A , CM000672.2:g.119147764G>A | GRCh38 |
| NC_000010.10:g.120907276G>A , CM000672.1:g.120907276G>A | GRCh37 |
| NC_000010.9:g.120897266G>A | NCBI36 |
| NG_033895.1:g.22929C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355697.7:c.818+11C>T MANE Select | ENSP00000347924.2:n.818+11C>T | |
| ENST00000355697.6:c.818+11C>T | ENSP00000347924.2:n.818+11C>T | |
| ENST00000369131.8:c.470+11C>T | ENSP00000358127.4:n.470+11C>T | |
| ENST00000461438.5:n.847+11C>T | ||
| ENST00000484960.5:n.148+11C>T | ||
| ENST00000490417.6:n.281+11C>T | ||
| NM_213649.1:c.818+11C>T | NP_998814.1:n.818+11C>T | |
| NR_110305.1:n.836+11C>T | ||
| XM_005269525.3:c.791+11C>T | XP_005269582.1:n.791+11C>T | |
| XM_005269526.1:c.470+11C>T | XP_005269583.1:n.470+11C>T | |
| XM_005269527.1:c.470+11C>T | XP_005269584.1:n.470+11C>T | |
| XM_011539282.1:c.470+11C>T | XP_011537584.1:n.470+11C>T | |
| XR_945603.1:n.880+11C>T | ||
| XM_005269525.5:c.791+11C>T | XP_005269582.1:n.791+11C>T | |
| XM_005269526.2:c.470+11C>T | XP_005269583.1:n.470+11C>T | |
| XM_011539282.2:c.470+11C>T | XP_011537584.1:n.470+11C>T | |
| XM_024447793.1:c.470+11C>T | XP_024303561.1:n.470+11C>T | |
| XR_001747022.1:n.1069+11C>T | ||
| XR_001747023.1:n.963+11C>T | ||
| XR_945603.3:n.899+11C>T | ||
| NM_213649.2:c.818+11C>T MANE Select | NP_998814.1:n.818+11C>T |