Linked Data
dbSNP Id:
rs755094512
ExAC:
19:41518734 A / G
gnomAD v2:
19-41518734-A-G
gnomAD v3:
19-41012829-A-G
gnomAD v4:
19-41012829-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41012829A>G , CM000681.2:g.41012829A>G | GRCh38 |
| NC_000019.9:g.41518734A>G , CM000681.1:g.41518734A>G | GRCh37 |
| NC_000019.8:g.46210574A>G | NCBI36 |
| NG_007929.1:g.26531A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324071.10:c.1294+14A>G MANE Select | ENSP00000324648.2:n.1294+14A>G | |
| ENST00000598834.2:c.1177-144A>G | ||
| ENST00000324071.8:c.1294+14A>G | ENSP00000324648.2:n.1294+14A>G | |
| ENST00000593831.1:c.586+14A>G | ENSP00000470582.1:n.586+14A>G | |
| ENST00000597612.1:n.647+344A>G | ||
| NM_000767.4:c.1294+14A>G | NP_000758.1:n.1294+14A>G | |
| XM_005258569.3:c.1152+344A>G | XP_005258626.1:n.1152+344A>G | |
| XM_006723050.2:c.1294+14A>G | XP_006723113.1:n.1294+14A>G | |
| XM_011526546.1:c.1166A>G | XP_011524848.1:p.His389Arg | |
| XM_011526547.1:c.1153-144A>G | XP_011524849.1:n.1153-144A>G | |
| XM_011526548.1:c.814+14A>G | XP_011524850.1:n.814+14A>G | |
| XM_011526549.1:c.703+14A>G | XP_011524851.1:n.703+14A>G | |
| XM_011526550.1:c.694+14A>G | XP_011524852.1:n.694+14A>G | |
| NM_000767.5:c.1294+14A>G MANE Select | NP_000758.1:n.1294+14A>G |