Linked Data
dbSNP Id:
rs72625375
ExAC:
Y:21869928 T / C
gnomAD v2:
Y-21869928-T-C
gnomAD v3:
Y-19708042-T-C
gnomAD v4:
Y-19708042-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19708042T>C , CM000686.2:g.19708042T>C | GRCh38 |
| NC_000024.9:g.21869928T>C , CM000686.1:g.21869928T>C | GRCh37 |
| NC_000024.8:g.20329316T>C | NCBI36 |
| NG_032920.1:g.41898A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317961.9:c.3291A>G MANE Select | ENSP00000322408.4:p.Ser1097= | |
| ENST00000317961.8:c.3291A>G | ENSP00000322408.4:p.Ser1097= | |
| ENST00000382806.6:c.3120A>G | ENSP00000372256.2:p.Ser1040= | |
| ENST00000415360.1:c.207A>G | ENSP00000389433.1:p.Ser69= | |
| ENST00000440077.5:c.3168A>G | ENSP00000398543.1:p.Ser1056= | |
| ENST00000469599.6:n.1889A>G | ||
| ENST00000492117.1:n.3183A>G | ||
| ENST00000541639.5:c.3384A>G | ENSP00000444293.1:p.Ser1128= | |
| NM_001146705.1:c.3384A>G | NP_001140177.1:p.Ser1128= | |
| NM_001146706.1:c.3120A>G | NP_001140178.1:p.Ser1040= | |
| NM_004653.4:c.3291A>G | NP_004644.2:p.Ser1097= | |
| XM_005262560.1:c.3156A>G | XP_005262617.1:p.Ser1052= | |
| XM_005262561.1:c.3060A>G | XP_005262618.1:p.Ser1020= | |
| XM_011531468.1:c.3213A>G | XP_011529770.1:p.Ser1071= | |
| XR_244571.2:n.3579A>G | ||
| XR_430568.2:n.3913A>G | ||
| XM_005262560.3:c.3156A>G | XP_005262617.1:p.Ser1052= | |
| XM_005262561.3:c.3060A>G | XP_005262618.1:p.Ser1020= | |
| XM_011531468.3:c.3213A>G | XP_011529770.1:p.Ser1071= | |
| XM_024452495.1:c.1281A>G | XP_024308263.1:p.Ser427= | |
| XM_024452496.1:c.1047A>G | XP_024308264.1:p.Ser349= | |
| XR_001756009.2:n.4029A>G | ||
| XR_001756010.2:n.4029A>G | ||
| XR_001756011.2:n.3894A>G | ||
| XR_001756012.2:n.4042A>G | ||
| XR_001756013.2:n.3360A>G | ||
| XR_002958832.1:n.3461A>G | ||
| XR_002958834.1:n.3685A>G | ||
| XR_002958835.1:n.3568A>G | ||
| XR_002958836.1:n.4251A>G | ||
| XR_002958837.1:n.4058A>G | ||
| XR_244571.4:n.3578A>G | ||
| XR_430568.4:n.3912A>G | ||
| NM_001146706.2:c.3120A>G | NP_001140178.1:p.Ser1040= | |
| NM_004653.5:c.3291A>G MANE Select | NP_004644.2:p.Ser1097= | |
| NM_001146705.2:c.3384A>G | NP_001140177.1:p.Ser1128= |