Linked Data
dbSNP Id:
rs1030461830
gnomAD v2:
19-40791240-C-A
gnomAD v3:
19-40285333-C-A
gnomAD v4:
19-40285333-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40285333C>A , CM000681.2:g.40285333C>A | GRCh38 |
| NC_000019.9:g.40791240C>A , CM000681.1:g.40791240C>A | GRCh37 |
| NC_000019.8:g.45483080C>A | NCBI36 |
| NG_012038.2:g.5026G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392038.7:c.-237G>T MANE Select | ENSP00000375892.2:n.-237G>T | |
| ENST00000391844.8:c.-283G>T | ENSP00000375719.4:n.-283G>T | |
| ENST00000392038.6:c.-237G>T | ENSP00000375892.2:n.-237G>T | |
| ENST00000424901.5:c.-237G>T | ENSP00000399532.2:n.-237G>T | |
| ENST00000578123.5:c.-85+115G>T | ENSP00000462022.1:n.-85+115G>T | |
| ENST00000579047.5:c.-293G>T | ENSP00000471369.1:n.-293G>T | |
| ENST00000584288.5:c.-376G>T | ENSP00000462469.1:n.-376G>T | |
| NM_001243027.2:c.-386G>T | NP_001229956.1:n.-386G>T | |
| NM_001243028.2:c.-293G>T | NP_001229957.1:n.-293G>T | |
| NM_001626.5:c.-237G>T | NP_001617.1:n.-237G>T | |
| XM_011526620.1:c.-85+115G>T | XP_011524922.1:n.-85+115G>T | |
| XM_011526622.1:c.-237G>T | XP_011524924.1:n.-237G>T | |
| XM_011526622.2:c.-237G>T | XP_011524924.1:n.-237G>T | |
| XM_024451417.1:c.-237G>T | XP_024307185.1:n.-237G>T | |
| NM_001626.6:c.-237G>T MANE Select | NP_001617.1:n.-237G>T | |
| NM_001243027.3:c.-386G>T | NP_001229956.1:n.-386G>T | |
| NM_001243028.3:c.-293G>T | NP_001229957.1:n.-293G>T |