Linked Data
dbSNP Id:
rs1213849400
gnomAD v2:
4-122607152-A-T
gnomAD v3:
4-121685997-A-T
gnomAD v4:
4-121685997-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.121685997A>T , CM000666.2:g.121685997A>T | GRCh38 |
| NC_000004.11:g.122607152A>T , CM000666.1:g.122607152A>T | GRCh37 |
| NC_000004.10:g.122826602A>T | NCBI36 |
| NG_032042.1:g.15996T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296511.10:c.94+291T>A MANE Select | ENSP00000296511.5:n.94+291T>A | |
| ENST00000296511.9:c.94+291T>A | ENSP00000296511.5:n.94+291T>A | |
| ENST00000501272.6:c.10-2520T>A | ENSP00000424106.1:n.10-2520T>A | |
| ENST00000506395.5:c.94+291T>A | ENSP00000421421.1:n.94+291T>A | |
| ENST00000509016.5:n.215+291T>A | ||
| ENST00000511552.5:n.480+291T>A | ||
| ENST00000513428.5:n.259+291T>A | ||
| ENST00000513523.1:n.262+291T>A | ||
| ENST00000513728.1:c.94+291T>A | ENSP00000427135.1:n.94+291T>A | |
| ENST00000515017.5:c.94+291T>A | ENSP00000424199.1:n.94+291T>A | |
| NM_001154.3:c.94+291T>A | NP_001145.1:n.94+291T>A | |
| XM_017008141.2:c.94+291T>A | XP_016863630.1:n.94+291T>A | |
| NM_001154.4:c.94+291T>A MANE Select | NP_001145.1:n.94+291T>A |