Linked Data
dbSNP Id:
rs577573367
gnomAD v2:
19-1104079-G-T
gnomAD v3:
19-1104080-G-T
gnomAD v4:
19-1104080-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1104080G>T , CM000681.2:g.1104080G>T | GRCh38 |
| NC_000019.9:g.1104079G>T , CM000681.1:g.1104079G>T | GRCh37 |
| NC_000019.8:g.1055079G>T | NCBI36 |
| NG_050621.1:g.5155G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000593032.6:c.-45G>T | ENSP00000465828.4:n.-45G>T | |
| ENST00000706713.1:c.37G>T | ENSP00000516510.1:p.Ala13Ser | |
| ENST00000706714.1:c.-45G>T | ENSP00000516511.1:n.-45G>T | |
| ENST00000354171.13:c.37G>T MANE Select | ENSP00000346103.7:p.Ala13Ser | |
| ENST00000589115.6:c.37G>T | ENSP00000466872.3:p.Ala13Ser | |
| ENST00000354171.12:c.37G>T | ENSP00000346103.7:p.Ala13Ser | |
| ENST00000588919.5:c.-45G>T | ENSP00000464989.3:n.-45G>T | |
| ENST00000589115.5:c.37G>T | ENSP00000466872.2:p.Ala13Ser | |
| ENST00000593032.5:c.-45G>T | ENSP00000465828.3:n.-45G>T | |
| ENST00000611653.4:c.-45G>T | ENSP00000483655.1:n.-45G>T | |
| ENST00000616066.4:c.37G>T | ENSP00000485000.1:p.Ala13Ser | |
| NM_001039847.2:c.37G>T | NP_001034936.1:p.Ala13Ser | |
| NM_002085.4:c.37G>T | NP_002076.2:p.Ala13Ser | |
| NM_001039847.3:c.37G>T | NP_001034936.1:p.Ala13Ser | |
| NM_001367832.1:c.-45G>T | NP_001354761.1:n.-45G>T | |
| NM_002085.5:c.37G>T MANE Select | NP_002076.2:p.Ala13Ser |