Linked Data
dbSNP Id:
rs775170144
ExAC:
15:50534652 C / T
gnomAD v2:
15-50534652-C-T
gnomAD v4:
15-50242455-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.50242455C>T , CM000677.2:g.50242455C>T | GRCh38 |
| NC_000015.9:g.50534652C>T , CM000677.1:g.50534652C>T | GRCh37 |
| NC_000015.8:g.48321944C>T | NCBI36 |
| NG_027487.1:g.28511G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267845.8:c.1794G>A MANE Select | ENSP00000267845.3:p.Leu598= | |
| ENST00000267845.7:c.1794G>A | ENSP00000267845.3:p.Leu598= | |
| ENST00000543581.5:c.1695G>A | ENSP00000440252.1:p.Leu565= | |
| ENST00000559816.1:n.1538G>A | ||
| NM_001306146.1:c.1695G>A | NP_001293075.1:p.Leu565= | |
| NM_002112.3:c.1794G>A | NP_002103.2:p.Leu598= | |
| XM_011521479.1:c.1557G>A | XP_011519781.1:p.Leu519= | |
| XM_011521480.1:c.1362G>A | XP_011519782.1:p.Leu454= | |
| XM_017022094.1:c.1899G>A | XP_016877583.1:p.Leu633= | |
| XM_017022095.1:c.1800G>A | XP_016877584.1:p.Leu600= | |
| XM_017022096.1:c.1671G>A | XP_016877585.1:p.Leu557= | |
| XM_017022097.1:c.1662G>A | XP_016877586.1:p.Leu554= | |
| XM_017022098.1:c.1467G>A | XP_016877587.1:p.Leu489= | |
| NM_002112.4:c.1794G>A MANE Select | NP_002103.2:p.Leu598= | |
| NM_001306146.2:c.1695G>A | NP_001293075.1:p.Leu565= |