Linked Data
ClinVar Variation Id:
365882
dbSNP Id:
rs187956407
ExAC:
9:139326442 G / A
gnomAD v2:
9-139326442-G-A
gnomAD v3:
9-136431990-G-A
gnomAD v4:
9-136431990-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136431990G>A , CM000671.2:g.136431990G>A | GRCh38 |
| NC_000009.11:g.139326442G>A , CM000671.1:g.139326442G>A | GRCh37 |
| NC_000009.10:g.138446263G>A | NCBI36 |
| NG_016126.1:g.12815C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371712.4:c.1388-5C>T MANE Select | ENSP00000360777.3:n.1388-5C>T | |
| ENST00000676019.1:c.1286-5C>T | ENSP00000501984.1:n.1286-5C>T | |
| ENST00000371712.3:c.1388-5C>T | ENSP00000360777.3:n.1388-5C>T | |
| NM_019892.4:c.1388-5C>T | NP_063945.2:n.1388-5C>T | |
| XM_005266094.2:c.1385-5C>T | XP_005266151.1:n.1385-5C>T | |
| XR_929828.1:n.1991-5C>T | ||
| NM_001318502.1:c.1385-5C>T | NP_001305431.1:n.1385-5C>T | |
| NM_019892.5:c.1388-5C>T | NP_063945.2:n.1388-5C>T | |
| XM_017014926.1:c.1388-5C>T | XP_016870415.1:n.1388-5C>T | |
| XR_929828.2:n.1993-5C>T | ||
| NM_019892.6:c.1388-5C>T MANE Select | NP_063945.2:n.1388-5C>T | |
| NM_001318502.2:c.1385-5C>T | NP_001305431.1:n.1385-5C>T |