Linked Data
dbSNP Id:
rs548315959
ExAC:
16:2159731 C / T
gnomAD v2:
16-2159731-C-T
gnomAD v3:
16-2109730-C-T
gnomAD v4:
16-2109730-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2109730C>T , CM000678.2:g.2109730C>T | GRCh38 |
| NC_000016.9:g.2159731C>T , CM000678.1:g.2159731C>T | GRCh37 |
| NC_000016.8:g.2099732C>T | NCBI36 |
| NG_008617.1:g.31169G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.5437G>A MANE Select | ENSP00000262304.4:p.Gly1813Arg | |
| ENST00000262304.8:c.5437G>A | ENSP00000262304.4:p.Gly1813Arg | |
| ENST00000415938.7:n.310+2610G>A | ||
| ENST00000423118.5:c.5437G>A | ENSP00000399501.1:p.Gly1813Arg | |
| ENST00000468674.5:n.431-380G>A | ||
| ENST00000483024.1:c.233+2086G>A | ||
| ENST00000483731.5:n.790+2610G>A | ||
| ENST00000487932.5:c.124G>A | ENSP00000457132.1:p.Gly42Arg | |
| ENST00000488185.2:c.473-1372G>A | ||
| ENST00000565639.6:n.773+2610G>A | ||
| ENST00000568591.5:c.2226+2610G>A | ENSP00000457162.1:n.2226+2610G>A | |
| ENST00000569983.5:n.421+2610G>A | ||
| NM_000296.3:c.5437G>A | NP_000287.3:p.Gly1813Arg | |
| NM_001009944.2:c.5437G>A | NP_001009944.2:p.Gly1813Arg | |
| XM_005255370.2:c.2392G>A | XP_005255427.1:p.Gly798Arg | |
| XM_011522525.1:c.5515G>A | XP_011520827.1:p.Gly1839Arg | |
| XM_011522526.1:c.5515G>A | XP_011520828.1:p.Gly1839Arg | |
| XM_011522527.1:c.5515G>A | XP_011520829.1:p.Gly1839Arg | |
| XM_011522528.1:c.5491G>A | XP_011520830.1:p.Gly1831Arg | |
| XM_011522529.1:c.5491G>A | XP_011520831.1:p.Gly1831Arg | |
| XM_011522530.1:c.5461G>A | XP_011520832.1:p.Gly1821Arg | |
| XM_011522531.1:c.5443G>A | XP_011520833.1:p.Gly1815Arg | |
| XM_011522532.1:c.5389G>A | XP_011520834.1:p.Gly1797Arg | |
| XM_011522533.1:c.5308G>A | XP_011520835.1:p.Gly1770Arg | |
| XM_011522534.1:c.5251G>A | XP_011520836.1:p.Gly1751Arg | |
| XM_011522535.1:c.3337G>A | XP_011520837.1:p.Gly1113Arg | |
| XM_011522536.1:c.5515G>A | XP_011520838.1:p.Gly1839Arg | |
| XM_011522537.1:c.2515G>A | XP_011520839.1:p.Gly839Arg | |
| XR_932867.1:n.5530G>A | ||
| XR_932868.1:n.5530G>A | ||
| XR_932869.1:n.5530G>A | ||
| XR_932870.1:n.5530G>A | ||
| XM_005255370.3:c.2392G>A | XP_005255427.1:p.Gly798Arg | |
| XM_011522528.3:c.5491G>A | XP_011520830.1:p.Gly1831Arg | |
| XM_011522529.2:c.5491G>A | XP_011520831.1:p.Gly1831Arg | |
| XM_011522537.2:c.2515G>A | XP_011520839.1:p.Gly839Arg | |
| XM_024450298.1:c.5557G>A | XP_024306066.1:p.Gly1853Arg | |
| XM_024450299.1:c.5485G>A | XP_024306067.1:p.Gly1829Arg | |
| XM_024450300.1:c.5347G>A | XP_024306068.1:p.Gly1783Arg | |
| XM_024450301.1:c.3433G>A | XP_024306069.1:p.Gly1145Arg | |
| NM_000296.4:c.5437G>A | NP_000287.4:p.Gly1813Arg | |
| NM_001009944.3:c.5437G>A MANE Select | NP_001009944.3:p.Gly1813Arg |