Linked Data
ClinVar Variation Id:
803164
dbSNP Id:
rs376618983
ExAC:
16:2156567 C / T
gnomAD v2:
16-2156567-C-T
gnomAD v3:
16-2106566-C-T
gnomAD v4:
16-2106566-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2106566C>T , CM000678.2:g.2106566C>T | GRCh38 |
| NC_000016.9:g.2156567C>T , CM000678.1:g.2156567C>T | GRCh37 |
| NC_000016.8:g.2096568C>T | NCBI36 |
| NG_008617.1:g.34333G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.7321G>A MANE Select | ENSP00000262304.4:p.Gly2441Ser | |
| ENST00000262304.8:c.7321G>A | ENSP00000262304.4:p.Gly2441Ser | |
| ENST00000415938.7:n.566G>A | ||
| ENST00000423118.5:c.7321G>A | ENSP00000399501.1:p.Gly2441Ser | |
| ENST00000483558.5:n.380G>A | ||
| ENST00000483731.5:n.1046G>A | ||
| ENST00000486339.6:n.1067G>A | ||
| ENST00000487932.5:c.2008G>A | ENSP00000457132.1:p.Gly670Ser | |
| ENST00000496574.6:n.1324G>A | ||
| ENST00000565639.6:n.1029G>A | ||
| ENST00000568591.5:c.2482G>A | ENSP00000457162.1:n.2482G>A | |
| ENST00000569983.5:n.677G>A | ||
| NM_000296.3:c.7321G>A | NP_000287.3:p.Gly2441Ser | |
| NM_001009944.2:c.7321G>A | NP_001009944.2:p.Gly2441Ser | |
| XM_005255370.2:c.4276G>A | XP_005255427.1:p.Gly1426Ser | |
| XM_011522525.1:c.7399G>A | XP_011520827.1:p.Gly2467Ser | |
| XM_011522526.1:c.7399G>A | XP_011520828.1:p.Gly2467Ser | |
| XM_011522527.1:c.7399G>A | XP_011520829.1:p.Gly2467Ser | |
| XM_011522528.1:c.7375G>A | XP_011520830.1:p.Gly2459Ser | |
| XM_011522529.1:c.7375G>A | XP_011520831.1:p.Gly2459Ser | |
| XM_011522530.1:c.7345G>A | XP_011520832.1:p.Gly2449Ser | |
| XM_011522531.1:c.7327G>A | XP_011520833.1:p.Gly2443Ser | |
| XM_011522532.1:c.7273G>A | XP_011520834.1:p.Gly2425Ser | |
| XM_011522533.1:c.7192G>A | XP_011520835.1:p.Gly2398Ser | |
| XM_011522534.1:c.7135G>A | XP_011520836.1:p.Gly2379Ser | |
| XM_011522535.1:c.5221G>A | XP_011520837.1:p.Gly1741Ser | |
| XM_011522536.1:c.7399G>A | XP_011520838.1:p.Gly2467Ser | |
| XM_011522537.1:c.4399G>A | XP_011520839.1:p.Gly1467Ser | |
| XR_932867.1:n.7414G>A | ||
| XR_932868.1:n.7414G>A | ||
| XR_932869.1:n.7414G>A | ||
| XR_932870.1:n.7414G>A | ||
| XM_005255370.3:c.4276G>A | XP_005255427.1:p.Gly1426Ser | |
| XM_011522528.3:c.7375G>A | XP_011520830.1:p.Gly2459Ser | |
| XM_011522529.2:c.7375G>A | XP_011520831.1:p.Gly2459Ser | |
| XM_011522537.2:c.4399G>A | XP_011520839.1:p.Gly1467Ser | |
| XM_024450298.1:c.7441G>A | XP_024306066.1:p.Gly2481Ser | |
| XM_024450299.1:c.7369G>A | XP_024306067.1:p.Gly2457Ser | |
| XM_024450300.1:c.7231G>A | XP_024306068.1:p.Gly2411Ser | |
| XM_024450301.1:c.5317G>A | XP_024306069.1:p.Gly1773Ser | |
| NM_000296.4:c.7321G>A | NP_000287.4:p.Gly2441Ser | |
| NM_001009944.3:c.7321G>A MANE Select | NP_001009944.3:p.Gly2441Ser |