Linked Data
ClinVar Variation Id:
287361
dbSNP Id:
rs375563605
ExAC:
2:44102558 G / A
gnomAD v2:
2-44102558-G-A
gnomAD v3:
2-43875419-G-A
gnomAD v4:
2-43875419-G-A
COSMIC:
COSM3962861
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43875419G>A , CM000664.2:g.43875419G>A | GRCh38 |
| NC_000002.11:g.44102558G>A , CM000664.1:g.44102558G>A | GRCh37 |
| NC_000002.10:g.43956062G>A | NCBI36 |
| NG_008884.1:g.41456G>A | |
| NG_008884.2:g.48478G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.1756+6G>A MANE Select | ENSP00000272286.2:n.1756+6G>A | |
| ENST00000272286.2:c.1756+6G>A | ENSP00000272286.2:n.1756+6G>A | |
| NM_022437.2:c.1756+6G>A | NP_071882.1:n.1756+6G>A | |
| XM_005264483.2:c.1753+6G>A | XP_005264540.1:n.1753+6G>A | |
| XM_011533029.1:c.1768+6G>A | XP_011531331.1:n.1768+6G>A | |
| XM_011533030.1:c.1765+6G>A | XP_011531332.1:n.1765+6G>A | |
| XM_011533031.1:c.1540+6G>A | XP_011531333.1:n.1540+6G>A | |
| XR_939707.1:n.2258+6G>A | ||
| NM_001357321.1:c.1753+6G>A | NP_001344250.1:n.1753+6G>A | |
| XM_011533029.2:c.1768+6G>A | XP_011531331.1:n.1768+6G>A | |
| XM_011533030.2:c.1765+6G>A | XP_011531332.1:n.1765+6G>A | |
| XR_001738891.1:n.2272+6G>A | ||
| XR_939707.2:n.2272+6G>A | ||
| NM_022437.3:c.1756+6G>A MANE Select | NP_071882.1:n.1756+6G>A | |
| NM_001357321.2:c.1753+6G>A | NP_001344250.1:n.1753+6G>A |