Linked Data
dbSNP Id:
rs774515086
ExAC:
16:2159631 C / G
gnomAD v2:
16-2159631-C-G
gnomAD v4:
16-2109630-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2109630C>G , CM000678.2:g.2109630C>G | GRCh38 |
| NC_000016.9:g.2159631C>G , CM000678.1:g.2159631C>G | GRCh37 |
| NC_000016.8:g.2099632C>G | NCBI36 |
| NG_008617.1:g.31269G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.5537G>C MANE Select | ENSP00000262304.4:p.Ser1846Thr | |
| ENST00000262304.8:c.5537G>C | ENSP00000262304.4:p.Ser1846Thr | |
| ENST00000415938.7:n.311-2682G>C | ||
| ENST00000423118.5:c.5537G>C | ENSP00000399501.1:p.Ser1846Thr | |
| ENST00000468674.5:n.431-280G>C | ||
| ENST00000483024.1:c.233+2186G>C | ||
| ENST00000483731.5:n.791-2682G>C | ||
| ENST00000487932.5:c.224G>C | ENSP00000457132.1:p.Ser75Thr | |
| ENST00000488185.2:c.473-1272G>C | ||
| ENST00000565639.6:n.774-2682G>C | ||
| ENST00000568591.5:c.2227-2682G>C | ENSP00000457162.1:n.2227-2682G>C | |
| ENST00000569983.5:n.422-2682G>C | ||
| NM_000296.3:c.5537G>C | NP_000287.3:p.Ser1846Thr | |
| NM_001009944.2:c.5537G>C | NP_001009944.2:p.Ser1846Thr | |
| XM_005255370.2:c.2492G>C | XP_005255427.1:p.Ser831Thr | |
| XM_011522525.1:c.5615G>C | XP_011520827.1:p.Ser1872Thr | |
| XM_011522526.1:c.5615G>C | XP_011520828.1:p.Ser1872Thr | |
| XM_011522527.1:c.5615G>C | XP_011520829.1:p.Ser1872Thr | |
| XM_011522528.1:c.5591G>C | XP_011520830.1:p.Ser1864Thr | |
| XM_011522529.1:c.5591G>C | XP_011520831.1:p.Ser1864Thr | |
| XM_011522530.1:c.5561G>C | XP_011520832.1:p.Ser1854Thr | |
| XM_011522531.1:c.5543G>C | XP_011520833.1:p.Ser1848Thr | |
| XM_011522532.1:c.5489G>C | XP_011520834.1:p.Ser1830Thr | |
| XM_011522533.1:c.5408G>C | XP_011520835.1:p.Ser1803Thr | |
| XM_011522534.1:c.5351G>C | XP_011520836.1:p.Ser1784Thr | |
| XM_011522535.1:c.3437G>C | XP_011520837.1:p.Ser1146Thr | |
| XM_011522536.1:c.5615G>C | XP_011520838.1:p.Ser1872Thr | |
| XM_011522537.1:c.2615G>C | XP_011520839.1:p.Ser872Thr | |
| XR_932867.1:n.5630G>C | ||
| XR_932868.1:n.5630G>C | ||
| XR_932869.1:n.5630G>C | ||
| XR_932870.1:n.5630G>C | ||
| XM_005255370.3:c.2492G>C | XP_005255427.1:p.Ser831Thr | |
| XM_011522528.3:c.5591G>C | XP_011520830.1:p.Ser1864Thr | |
| XM_011522529.2:c.5591G>C | XP_011520831.1:p.Ser1864Thr | |
| XM_011522537.2:c.2615G>C | XP_011520839.1:p.Ser872Thr | |
| XM_024450298.1:c.5657G>C | XP_024306066.1:p.Ser1886Thr | |
| XM_024450299.1:c.5585G>C | XP_024306067.1:p.Ser1862Thr | |
| XM_024450300.1:c.5447G>C | XP_024306068.1:p.Ser1816Thr | |
| XM_024450301.1:c.3533G>C | XP_024306069.1:p.Ser1178Thr | |
| NM_000296.4:c.5537G>C | NP_000287.4:p.Ser1846Thr | |
| NM_001009944.3:c.5537G>C MANE Select | NP_001009944.3:p.Ser1846Thr |