Linked Data
dbSNP Id:
rs17528736
gnomAD v2:
12-56368518-C-T
gnomAD v3:
12-55974734-C-T
gnomAD v4:
12-55974734-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55974734C>T , CM000674.2:g.55974734C>T | GRCh38 |
| NC_000012.11:g.56368518C>T , CM000674.1:g.56368518C>T | GRCh37 |
| NC_000012.10:g.54654785C>T | NCBI36 |
| NG_034014.1:g.12966C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360299.10:c.-93+595C>T MANE Select | ENSP00000353444.5:n.-93+595C>T | |
| ENST00000360299.9:c.-93+595C>T | ENSP00000353444.5:n.-93+595C>T | |
| ENST00000448789.2:c.-93+595C>T | ENSP00000391319.2:n.-93+595C>T | |
| ENST00000546810.1:n.62+595C>T | ||
| ENST00000548068.5:c.-196+595C>T | ENSP00000447895.1:n.-196+595C>T | |
| ENST00000549505.5:c.-93+595C>T | ENSP00000450285.1:n.-93+595C>T | |
| ENST00000549915.5:c.-215+595C>T | ENSP00000449762.1:n.-215+595C>T | |
| ENST00000551459.5:c.-230+595C>T | ENSP00000449554.1:n.-230+595C>T | |
| ENST00000553116.5:c.-93+734C>T | ENSP00000450168.1:n.-93+734C>T | |
| NM_001252036.1:c.-93+734C>T | NP_001238965.1:n.-93+734C>T | |
| NM_001252037.1:c.-93+595C>T | NP_001238966.1:n.-93+595C>T | |
| NM_002868.3:c.-93+595C>T | NP_002859.1:n.-93+595C>T | |
| XM_005269051.1:c.-196+595C>T | XP_005269108.1:n.-196+595C>T | |
| XM_005269052.1:c.-93+395C>T | XP_005269109.1:n.-93+395C>T | |
| XM_005269051.3:c.-196+595C>T | XP_005269108.1:n.-196+595C>T | |
| XM_005269052.3:c.-93+395C>T | XP_005269109.1:n.-93+395C>T | |
| NM_002868.4:c.-93+595C>T MANE Select | NP_002859.1:n.-93+595C>T | |
| NM_001252036.2:c.-93+734C>T | NP_001238965.1:n.-93+734C>T | |
| NM_001252037.2:c.-93+595C>T | NP_001238966.1:n.-93+595C>T |