Linked Data
ClinVar Variation Id:
1326766
dbSNP Id:
rs757038374
ExAC:
12:116440920 G / A
gnomAD v2:
12-116440920-G-A
gnomAD v3:
12-116003115-G-A
gnomAD v4:
12-116003115-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.116003115G>A , CM000674.2:g.116003115G>A | GRCh38 |
| NC_000012.11:g.116440920G>A , CM000674.1:g.116440920G>A | GRCh37 |
| NC_000012.10:g.114925303G>A | NCBI36 |
| NG_023366.1:g.279072C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.2470-13C>T MANE Select | ENSP00000281928.3:n.2470-13C>T | |
| ENST00000548743.2:c.2440-13C>T | ENSP00000448553.2:n.2440-13C>T | |
| ENST00000549786.2:c.1898-13C>T | ||
| ENST00000648173.1:n.1265-13C>T | ||
| ENST00000648379.1:n.825C>T | ||
| ENST00000648737.1:n.2234-13C>T | ||
| ENST00000648916.1:n.481-13C>T | ||
| ENST00000649607.1:c.657-13C>T | ||
| ENST00000650226.1:c.2470-13C>T | ENSP00000496981.1:n.2470-13C>T | |
| ENST00000281928.7:c.2470-13C>T | ENSP00000281928.3:n.2470-13C>T | |
| NM_015335.4:c.2470-13C>T | NP_056150.1:n.2470-13C>T | |
| XM_011538080.1:c.2470-13C>T | XP_011536382.1:n.2470-13C>T | |
| XM_011538081.1:c.2470-13C>T | XP_011536383.1:n.2470-13C>T | |
| XM_011538082.1:c.2440-13C>T | XP_011536384.1:n.2440-13C>T | |
| XM_011538080.2:c.2470-13C>T | XP_011536382.1:n.2470-13C>T | |
| XM_011538081.2:c.2470-13C>T | XP_011536383.1:n.2470-13C>T | |
| XM_011538082.2:c.2440-13C>T | XP_011536384.1:n.2440-13C>T | |
| XM_017019090.1:c.2470-13C>T | XP_016874579.1:n.2470-13C>T | |
| NM_015335.5:c.2470-13C>T MANE Select | NP_056150.1:n.2470-13C>T |