Linked Data
ClinVar Variation Id:
501909
dbSNP Id:
rs759300542
ExAC:
2:44100919 T / A
gnomAD v2:
2-44100919-T-A
gnomAD v3:
2-43873780-T-A
gnomAD v4:
2-43873780-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43873780T>A , CM000664.2:g.43873780T>A | GRCh38 |
| NC_000002.11:g.44100919T>A , CM000664.1:g.44100919T>A | GRCh37 |
| NC_000002.10:g.43954423T>A | NCBI36 |
| NG_008884.1:g.39817T>A | |
| NG_008884.2:g.46839T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.1212-7T>A MANE Select | ENSP00000272286.2:n.1212-7T>A | |
| ENST00000644611.1:c.1224-7T>A | ENSP00000495423.1:n.1224-7T>A | |
| ENST00000272286.2:c.1212-7T>A | ENSP00000272286.2:n.1212-7T>A | |
| NM_022437.2:c.1212-7T>A | NP_071882.1:n.1212-7T>A | |
| XM_005264483.2:c.1209-7T>A | XP_005264540.1:n.1209-7T>A | |
| XM_011533029.1:c.1224-7T>A | XP_011531331.1:n.1224-7T>A | |
| XM_011533030.1:c.1221-7T>A | XP_011531332.1:n.1221-7T>A | |
| XM_011533031.1:c.996-7T>A | XP_011531333.1:n.996-7T>A | |
| XR_939707.1:n.1714-7T>A | ||
| NM_001357321.1:c.1209-7T>A | NP_001344250.1:n.1209-7T>A | |
| XM_011533029.2:c.1224-7T>A | XP_011531331.1:n.1224-7T>A | |
| XM_011533030.2:c.1221-7T>A | XP_011531332.1:n.1221-7T>A | |
| XR_001738891.1:n.1728-7T>A | ||
| XR_939707.2:n.1728-7T>A | ||
| NM_022437.3:c.1212-7T>A MANE Select | NP_071882.1:n.1212-7T>A | |
| NM_001357321.2:c.1209-7T>A | NP_001344250.1:n.1209-7T>A |