Linked Data
dbSNP Id:
rs1048261
gnomAD v2:
1-16340951-A-T
gnomAD v3:
1-16014456-A-T
gnomAD v4:
1-16014456-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16014456A>T , CM000663.2:g.16014456A>T | GRCh38 |
| NC_000001.10:g.16340951A>T , CM000663.1:g.16340951A>T | GRCh37 |
| NC_000001.9:g.16213538A>T | NCBI36 |
| NG_053133.1:g.9341T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000311890.14:c.*1124T>A MANE Select | ENSP00000310111.9:n.*1124T>A | |
| ENST00000311890.13:c.*1124T>A | ENSP00000310111.9:n.*1124T>A | |
| ENST00000375718.4:c.*1124T>A | ENSP00000364870.4:n.*1124T>A | |
| ENST00000411503.5:c.*1124T>A | ENSP00000391578.1:n.*1124T>A | |
| ENST00000442459.2:n.2274T>A | ||
| NM_014424.4:c.*1124T>A | NP_055239.1:n.*1124T>A | |
| XM_011541249.1:c.*1124T>A | XP_011539551.1:n.*1124T>A | |
| XM_011541250.1:c.*1124T>A | XP_011539552.1:n.*1124T>A | |
| NM_001349682.1:c.*1124T>A | NP_001336611.1:n.*1124T>A | |
| NM_001349683.1:c.*1124T>A | NP_001336612.1:n.*1124T>A | |
| NM_001349685.1:c.*1124T>A | NP_001336614.1:n.*1124T>A | |
| NM_001349686.1:c.*1124T>A | NP_001336615.1:n.*1124T>A | |
| NM_001349687.1:c.*1124T>A | NP_001336616.1:n.*1124T>A | |
| NM_001349688.1:c.*1124T>A | NP_001336617.1:n.*1124T>A | |
| NM_001349689.1:c.*1124T>A | NP_001336618.1:n.*1124T>A | |
| NM_001349682.2:c.*1124T>A | NP_001336611.1:n.*1124T>A | |
| NM_001349683.2:c.*1124T>A | NP_001336612.1:n.*1124T>A | |
| NM_001349685.2:c.*1124T>A | NP_001336614.1:n.*1124T>A | |
| NM_001349686.2:c.*1124T>A | NP_001336615.1:n.*1124T>A | |
| NM_001349687.2:c.*1124T>A | NP_001336616.1:n.*1124T>A | |
| NM_001349688.2:c.*1124T>A | NP_001336617.1:n.*1124T>A | |
| NM_001349689.2:c.*1124T>A | NP_001336618.1:n.*1124T>A | |
| NM_014424.5:c.*1124T>A MANE Select | NP_055239.1:n.*1124T>A |