Linked Data
dbSNP Id:
rs771820432
ExAC:
16:2164499 C / T
gnomAD v2:
16-2164499-C-T
gnomAD v4:
16-2114498-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2114498C>T , CM000678.2:g.2114498C>T | GRCh38 |
| NC_000016.9:g.2164499C>T , CM000678.1:g.2164499C>T | GRCh37 |
| NC_000016.8:g.2104500C>T | NCBI36 |
| NG_008617.1:g.26401G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.2525G>A MANE Select | ENSP00000262304.4:p.Gly842Asp | |
| ENST00000262304.8:c.2525G>A | ENSP00000262304.4:p.Gly842Asp | |
| ENST00000423118.5:c.2525G>A | ENSP00000399501.1:p.Gly842Asp | |
| ENST00000488185.2:c.472+2991G>A | ||
| ENST00000568591.5:c.1456G>A | ENSP00000457162.1:n.1456G>A | |
| NM_000296.3:c.2525G>A | NP_000287.3:p.Gly842Asp | |
| NM_001009944.2:c.2525G>A | NP_001009944.2:p.Gly842Asp | |
| XM_011522525.1:c.2579G>A | XP_011520827.1:p.Gly860Asp | |
| XM_011522526.1:c.2579G>A | XP_011520828.1:p.Gly860Asp | |
| XM_011522527.1:c.2579G>A | XP_011520829.1:p.Gly860Asp | |
| XM_011522528.1:c.2579G>A | XP_011520830.1:p.Gly860Asp | |
| XM_011522529.1:c.2579G>A | XP_011520831.1:p.Gly860Asp | |
| XM_011522530.1:c.2525G>A | XP_011520832.1:p.Gly842Asp | |
| XM_011522531.1:c.2507G>A | XP_011520833.1:p.Gly836Asp | |
| XM_011522532.1:c.2453G>A | XP_011520834.1:p.Gly818Asp | |
| XM_011522533.1:c.2372G>A | XP_011520835.1:p.Gly791Asp | |
| XM_011522534.1:c.2315G>A | XP_011520836.1:p.Gly772Asp | |
| XM_011522535.1:c.401G>A | XP_011520837.1:p.Gly134Asp | |
| XM_011522536.1:c.2579G>A | XP_011520838.1:p.Gly860Asp | |
| XR_932867.1:n.2594G>A | ||
| XR_932868.1:n.2594G>A | ||
| XR_932869.1:n.2594G>A | ||
| XR_932870.1:n.2594G>A | ||
| XM_005255370.3:c.-525G>A | XP_005255427.1:n.-525G>A | |
| XM_011522528.3:c.2579G>A | XP_011520830.1:p.Gly860Asp | |
| XM_011522529.2:c.2579G>A | XP_011520831.1:p.Gly860Asp | |
| XM_024450298.1:c.2525G>A | XP_024306066.1:p.Gly842Asp | |
| XM_024450299.1:c.2453G>A | XP_024306067.1:p.Gly818Asp | |
| XM_024450300.1:c.2315G>A | XP_024306068.1:p.Gly772Asp | |
| XM_024450301.1:c.401G>A | XP_024306069.1:p.Gly134Asp | |
| NM_000296.4:c.2525G>A | NP_000287.4:p.Gly842Asp | |
| NM_001009944.3:c.2525G>A MANE Select | NP_001009944.3:p.Gly842Asp |