Linked Data
dbSNP Id:
rs757247674
ExAC:
15:50534468 C / T
gnomAD v2:
15-50534468-C-T
gnomAD v3:
15-50242271-C-T
gnomAD v4:
15-50242271-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.50242271C>T , CM000677.2:g.50242271C>T | GRCh38 |
| NC_000015.9:g.50534468C>T , CM000677.1:g.50534468C>T | GRCh37 |
| NC_000015.8:g.48321760C>T | NCBI36 |
| NG_027487.1:g.28695G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267845.8:c.1978G>A MANE Select | ENSP00000267845.3:p.Ala660Thr | |
| ENST00000267845.7:c.1978G>A | ENSP00000267845.3:p.Ala660Thr | |
| ENST00000543581.5:c.1879G>A | ENSP00000440252.1:p.Ala627Thr | |
| ENST00000559816.1:n.1722G>A | ||
| NM_001306146.1:c.1879G>A | NP_001293075.1:p.Ala627Thr | |
| NM_002112.3:c.1978G>A | NP_002103.2:p.Ala660Thr | |
| XM_011521479.1:c.1741G>A | XP_011519781.1:p.Ala581Thr | |
| XM_011521480.1:c.1546G>A | XP_011519782.1:p.Ala516Thr | |
| XM_017022094.1:c.2083G>A | XP_016877583.1:p.Ala695Thr | |
| XM_017022095.1:c.1984G>A | XP_016877584.1:p.Ala662Thr | |
| XM_017022096.1:c.1855G>A | XP_016877585.1:p.Ala619Thr | |
| XM_017022097.1:c.1846G>A | XP_016877586.1:p.Ala616Thr | |
| XM_017022098.1:c.1651G>A | XP_016877587.1:p.Ala551Thr | |
| NM_002112.4:c.1978G>A MANE Select | NP_002103.2:p.Ala660Thr | |
| NM_001306146.2:c.1879G>A | NP_001293075.1:p.Ala627Thr |