Linked Data
ClinVar Variation Id:
1315254
dbSNP Id:
rs775988021
ExAC:
16:2164535 G / A
gnomAD v2:
16-2164535-G-A
gnomAD v3:
16-2114534-G-A
gnomAD v4:
16-2114534-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2114534G>A , CM000678.2:g.2114534G>A | GRCh38 |
| NC_000016.9:g.2164535G>A , CM000678.1:g.2164535G>A | GRCh37 |
| NC_000016.8:g.2104536G>A | NCBI36 |
| NG_008617.1:g.26365C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.2489C>T MANE Select | ENSP00000262304.4:p.Ala830Val | |
| ENST00000262304.8:c.2489C>T | ENSP00000262304.4:p.Ala830Val | |
| ENST00000423118.5:c.2489C>T | ENSP00000399501.1:p.Ala830Val | |
| ENST00000488185.2:c.472+2955C>T | ||
| ENST00000568591.5:c.1420C>T | ENSP00000457162.1:n.1420C>T | |
| NM_000296.3:c.2489C>T | NP_000287.3:p.Ala830Val | |
| NM_001009944.2:c.2489C>T | NP_001009944.2:p.Ala830Val | |
| XM_011522525.1:c.2543C>T | XP_011520827.1:p.Ala848Val | |
| XM_011522526.1:c.2543C>T | XP_011520828.1:p.Ala848Val | |
| XM_011522527.1:c.2543C>T | XP_011520829.1:p.Ala848Val | |
| XM_011522528.1:c.2543C>T | XP_011520830.1:p.Ala848Val | |
| XM_011522529.1:c.2543C>T | XP_011520831.1:p.Ala848Val | |
| XM_011522530.1:c.2489C>T | XP_011520832.1:p.Ala830Val | |
| XM_011522531.1:c.2471C>T | XP_011520833.1:p.Ala824Val | |
| XM_011522532.1:c.2417C>T | XP_011520834.1:p.Ala806Val | |
| XM_011522533.1:c.2336C>T | XP_011520835.1:p.Ala779Val | |
| XM_011522534.1:c.2279C>T | XP_011520836.1:p.Ala760Val | |
| XM_011522535.1:c.365C>T | XP_011520837.1:p.Ala122Val | |
| XM_011522536.1:c.2543C>T | XP_011520838.1:p.Ala848Val | |
| XR_932867.1:n.2558C>T | ||
| XR_932868.1:n.2558C>T | ||
| XR_932869.1:n.2558C>T | ||
| XR_932870.1:n.2558C>T | ||
| XM_005255370.3:c.-561C>T | XP_005255427.1:n.-561C>T | |
| XM_011522528.3:c.2543C>T | XP_011520830.1:p.Ala848Val | |
| XM_011522529.2:c.2543C>T | XP_011520831.1:p.Ala848Val | |
| XM_024450298.1:c.2489C>T | XP_024306066.1:p.Ala830Val | |
| XM_024450299.1:c.2417C>T | XP_024306067.1:p.Ala806Val | |
| XM_024450300.1:c.2279C>T | XP_024306068.1:p.Ala760Val | |
| XM_024450301.1:c.365C>T | XP_024306069.1:p.Ala122Val | |
| NM_000296.4:c.2489C>T | NP_000287.4:p.Ala830Val | |
| NM_001009944.3:c.2489C>T MANE Select | NP_001009944.3:p.Ala830Val |