Linked Data
dbSNP Id:
rs11587682
gnomAD v2:
1-150324284-C-T
gnomAD v3:
1-150351808-C-T
gnomAD v4:
1-150351808-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150351808C>T , CM000663.2:g.150351808C>T | GRCh38 |
| NC_000001.10:g.150324284C>T , CM000663.1:g.150324284C>T | GRCh37 |
| NC_000001.9:g.148590908C>T | NCBI36 |
| NG_008245.1:g.35357C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324862.7:c.1906-1025C>T MANE Select | ENSP00000315379.6:n.1906-1025C>T | |
| ENST00000324862.6:c.1906-1025C>T | ENSP00000315379.6:n.1906-1025C>T | |
| ENST00000467329.5:n.2233-1025C>T | ||
| ENST00000470824.1:n.536-1025C>T | ||
| NM_004698.2:c.1906-1025C>T | NP_004689.1:n.1906-1025C>T | |
| XM_011510129.1:c.1501-1025C>T | XP_011508431.1:n.1501-1025C>T | |
| XM_011510130.1:c.1474-1025C>T | XP_011508432.1:n.1474-1025C>T | |
| XR_241103.1:n.1889-1025C>T | ||
| XR_921998.1:n.2003-1025C>T | ||
| NM_001350529.1:c.1501-1025C>T | NP_001337458.1:n.1501-1025C>T | |
| NM_004698.3:c.1906-1025C>T | NP_004689.1:n.1906-1025C>T | |
| NR_146766.1:n.2137-1025C>T | ||
| NR_146767.1:n.2233-1025C>T | ||
| NR_146768.1:n.2089-1025C>T | ||
| NR_146769.1:n.2142-1025C>T | ||
| XM_011510130.3:c.1474-1025C>T | XP_011508432.1:n.1474-1025C>T | |
| XM_017002790.1:c.1474-1025C>T | XP_016858279.1:n.1474-1025C>T | |
| XR_001737536.2:n.1939-1025C>T | ||
| XR_001737537.2:n.2053-1025C>T | ||
| XR_001737540.2:n.2810-1025C>T | ||
| XR_001737541.2:n.1833-1025C>T | ||
| XR_002958009.1:n.2563-1025C>T | ||
| XR_002958010.1:n.3809-1025C>T | ||
| XR_002958012.1:n.2005-1025C>T | ||
| XR_241103.3:n.1881-1025C>T | ||
| XR_921997.3:n.1891-1025C>T | ||
| XR_921998.3:n.1995-1025C>T | ||
| NM_004698.4:c.1906-1025C>T MANE Select | NP_004689.1:n.1906-1025C>T |