Linked Data
ClinVar Variation Id:
377875
dbSNP Id:
rs148942437
ExAC:
9:97365869 C / A
gnomAD v2:
9-97365869-C-A
gnomAD v3:
9-94603587-C-A
gnomAD v4:
9-94603587-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.94603587C>A , CM000671.2:g.94603587C>A | GRCh38 |
| NC_000009.11:g.97365869C>A , CM000671.1:g.97365869C>A | GRCh37 |
| NC_000009.10:g.96405690C>A | NCBI36 |
| NG_008174.1:g.41663G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682520.1:c.986-15G>T | ENSP00000507547.1:n.986-15G>T | |
| ENST00000375326.9:c.826-15G>T MANE Select | ENSP00000364475.5:n.826-15G>T | |
| ENST00000648117.1:c.631-15G>T | ENSP00000498145.1:n.631-15G>T | |
| ENST00000375326.8:c.826-15G>T | ENSP00000364475.4:n.826-15G>T | |
| ENST00000415431.5:c.826-15G>T | ENSP00000408025.1:n.826-15G>T | |
| NM_000507.3:c.826-15G>T | NP_000498.2:n.826-15G>T | |
| NM_001127628.1:c.826-15G>T | NP_001121100.1:n.826-15G>T | |
| XM_006717005.2:c.580-15G>T | XP_006717068.1:n.580-15G>T | |
| XM_006717005.4:c.580-15G>T | XP_006717068.1:n.580-15G>T | |
| NM_000507.4:c.826-15G>T MANE Select | NP_000498.2:n.826-15G>T | |
| NM_001127628.2:c.826-15G>T | NP_001121100.1:n.826-15G>T |