Linked Data
ClinVar Variation Id:
2734266
ClinVar RCV Id:
RCV003494639
dbSNP Id:
rs199469478
gnomAD v4:
2-127423176-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127423176G>T , CM000664.2:g.127423176G>T | GRCh38 |
| NC_000002.11:g.128180752G>T , CM000664.1:g.128180752G>T | GRCh37 |
| NC_000002.10:g.127897222G>T | NCBI36 |
| NG_016323.1:g.9757G>T , LRG_599:g.9757G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000234071.8:c.400+5G>T MANE Select | ENSP00000234071.4:n.400+5G>T | |
| ENST00000234071.7:c.400+5G>T | ENSP00000234071.3:n.400+5G>T | |
| ENST00000409048.1:c.405G>T | ENSP00000386679.1:p.Glu135Asp | |
| ENST00000419985.5:c.*211G>T | ENSP00000392606.1:n.*211G>T | |
| ENST00000442644.5:c.400+5G>T | ENSP00000411241.1:n.400+5G>T | |
| NM_000312.3:c.400+5G>T , LRG_599t1:c.400+5G>T | NP_000303.1:n.400+5G>T | |
| XM_005263715.3:c.583+5G>T | XP_005263772.1:n.583+5G>T | |
| XM_005263716.3:c.468G>T | XP_005263773.1:p.Glu156Asp | |
| XM_005263717.3:c.463+5G>T | XP_005263774.1:n.463+5G>T | |
| XM_005263717.4:c.463+5G>T | XP_005263774.1:n.463+5G>T | |
| XM_017004505.1:c.643+5G>T | XP_016859994.1:n.643+5G>T | |
| XM_024453002.1:c.648G>T | XP_024308770.1:p.Glu216Asp | |
| XM_024453003.1:c.588G>T | XP_024308771.1:p.Glu196Asp | |
| XM_024453004.1:c.583+5G>T | XP_024308772.1:n.583+5G>T | |
| XM_024453005.1:c.468G>T | XP_024308773.1:p.Glu156Asp | |
| XM_024453006.1:c.405G>T | XP_024308774.1:p.Glu135Asp | |
| NM_000312.4:c.400+5G>T MANE Select | NP_000303.1:n.400+5G>T | |
| NM_001375602.1:c.583+5G>T | NP_001362531.1:n.583+5G>T | |
| NM_001375603.1:c.468G>T | NP_001362532.1:p.Glu156Asp | |
| NM_001375604.1:c.463+5G>T | NP_001362533.1:n.463+5G>T | |
| NM_001375605.1:c.405G>T | NP_001362534.1:p.Glu135Asp | |
| NM_001375606.1:c.560G>T | NP_001362535.1:p.Arg187Met | |
| NM_001375607.1:c.489G>T | NP_001362536.1:p.Glu163Asp | |
| NM_001375608.1:c.400+5G>T | NP_001362537.1:n.400+5G>T | |
| NM_001375609.1:c.376+5G>T | NP_001362538.1:n.376+5G>T | |
| NM_001375610.1:c.394+5G>T | NP_001362539.1:n.394+5G>T | |
| NM_001375611.1:c.400+5G>T | NP_001362540.1:n.400+5G>T | |
| NM_001375613.1:c.400+5G>T | NP_001362542.1:n.400+5G>T |