Linked Data
ClinVar Variation Id:
497784
dbSNP Id:
rs201991639
ExAC:
2:44101133 T / A
gnomAD v2:
2-44101133-T-A
gnomAD v3:
2-43873994-T-A
gnomAD v4:
2-43873994-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43873994T>A , CM000664.2:g.43873994T>A | GRCh38 |
| NC_000002.11:g.44101133T>A , CM000664.1:g.44101133T>A | GRCh37 |
| NC_000002.10:g.43954637T>A | NCBI36 |
| NG_008884.1:g.40031T>A | |
| NG_008884.2:g.47053T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.1411+8T>A MANE Select | ENSP00000272286.2:n.1411+8T>A | |
| ENST00000272286.2:c.1411+8T>A | ENSP00000272286.2:n.1411+8T>A | |
| NM_022437.2:c.1411+8T>A | NP_071882.1:n.1411+8T>A | |
| XM_005264483.2:c.1408+8T>A | XP_005264540.1:n.1408+8T>A | |
| XM_011533029.1:c.1423+8T>A | XP_011531331.1:n.1423+8T>A | |
| XM_011533030.1:c.1420+8T>A | XP_011531332.1:n.1420+8T>A | |
| XM_011533031.1:c.1195+8T>A | XP_011531333.1:n.1195+8T>A | |
| XR_939707.1:n.1913+8T>A | ||
| NM_001357321.1:c.1408+8T>A | NP_001344250.1:n.1408+8T>A | |
| XM_011533029.2:c.1423+8T>A | XP_011531331.1:n.1423+8T>A | |
| XM_011533030.2:c.1420+8T>A | XP_011531332.1:n.1420+8T>A | |
| XR_001738891.1:n.1927+8T>A | ||
| XR_939707.2:n.1927+8T>A | ||
| NM_022437.3:c.1411+8T>A MANE Select | NP_071882.1:n.1411+8T>A | |
| NM_001357321.2:c.1408+8T>A | NP_001344250.1:n.1408+8T>A |