Linked Data
ClinVar Variation Id:
805179
dbSNP Id:
rs62038819
ExAC:
16:2156599 C / T
gnomAD v2:
16-2156599-C-T
gnomAD v3:
16-2106598-C-T
gnomAD v4:
16-2106598-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2106598C>T , CM000678.2:g.2106598C>T | GRCh38 |
| NC_000016.9:g.2156599C>T , CM000678.1:g.2156599C>T | GRCh37 |
| NC_000016.8:g.2096600C>T | NCBI36 |
| NG_008617.1:g.34301G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.7289G>A MANE Select | ENSP00000262304.4:p.Arg2430Gln | |
| ENST00000262304.8:c.7289G>A | ENSP00000262304.4:p.Arg2430Gln | |
| ENST00000415938.7:n.534G>A | ||
| ENST00000423118.5:c.7289G>A | ENSP00000399501.1:p.Arg2430Gln | |
| ENST00000483024.1:c.457G>A | ||
| ENST00000483558.5:n.348G>A | ||
| ENST00000483731.5:n.1014G>A | ||
| ENST00000486339.6:n.1035G>A | ||
| ENST00000487932.5:c.1976G>A | ENSP00000457132.1:p.Arg659Gln | |
| ENST00000496574.6:n.1292G>A | ||
| ENST00000565639.6:n.997G>A | ||
| ENST00000568591.5:c.2450G>A | ENSP00000457162.1:n.2450G>A | |
| ENST00000569983.5:n.645G>A | ||
| NM_000296.3:c.7289G>A | NP_000287.3:p.Arg2430Gln | |
| NM_001009944.2:c.7289G>A | NP_001009944.2:p.Arg2430Gln | |
| XM_005255370.2:c.4244G>A | XP_005255427.1:p.Arg1415Gln | |
| XM_011522525.1:c.7367G>A | XP_011520827.1:p.Arg2456Gln | |
| XM_011522526.1:c.7367G>A | XP_011520828.1:p.Arg2456Gln | |
| XM_011522527.1:c.7367G>A | XP_011520829.1:p.Arg2456Gln | |
| XM_011522528.1:c.7343G>A | XP_011520830.1:p.Arg2448Gln | |
| XM_011522529.1:c.7343G>A | XP_011520831.1:p.Arg2448Gln | |
| XM_011522530.1:c.7313G>A | XP_011520832.1:p.Arg2438Gln | |
| XM_011522531.1:c.7295G>A | XP_011520833.1:p.Arg2432Gln | |
| XM_011522532.1:c.7241G>A | XP_011520834.1:p.Arg2414Gln | |
| XM_011522533.1:c.7160G>A | XP_011520835.1:p.Arg2387Gln | |
| XM_011522534.1:c.7103G>A | XP_011520836.1:p.Arg2368Gln | |
| XM_011522535.1:c.5189G>A | XP_011520837.1:p.Arg1730Gln | |
| XM_011522536.1:c.7367G>A | XP_011520838.1:p.Arg2456Gln | |
| XM_011522537.1:c.4367G>A | XP_011520839.1:p.Arg1456Gln | |
| XR_932867.1:n.7382G>A | ||
| XR_932868.1:n.7382G>A | ||
| XR_932869.1:n.7382G>A | ||
| XR_932870.1:n.7382G>A | ||
| XM_005255370.3:c.4244G>A | XP_005255427.1:p.Arg1415Gln | |
| XM_011522528.3:c.7343G>A | XP_011520830.1:p.Arg2448Gln | |
| XM_011522529.2:c.7343G>A | XP_011520831.1:p.Arg2448Gln | |
| XM_011522537.2:c.4367G>A | XP_011520839.1:p.Arg1456Gln | |
| XM_024450298.1:c.7409G>A | XP_024306066.1:p.Arg2470Gln | |
| XM_024450299.1:c.7337G>A | XP_024306067.1:p.Arg2446Gln | |
| XM_024450300.1:c.7199G>A | XP_024306068.1:p.Arg2400Gln | |
| XM_024450301.1:c.5285G>A | XP_024306069.1:p.Arg1762Gln | |
| NM_000296.4:c.7289G>A | NP_000287.4:p.Arg2430Gln | |
| NM_001009944.3:c.7289G>A MANE Select | NP_001009944.3:p.Arg2430Gln |