Linked Data
dbSNP Id:
rs2125230
gnomAD v2:
1-243885848-G-A
gnomAD v3:
1-243722546-G-A
gnomAD v4:
1-243722546-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.243722546G>A , CM000663.2:g.243722546G>A | GRCh38 |
| NC_000001.10:g.243885848G>A , CM000663.1:g.243885848G>A | GRCh37 |
| NC_000001.9:g.241952471G>A | NCBI36 |
| NG_029764.1:g.126039C>T | |
| NG_029764.2:g.133534C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263826.12:c.47-26830C>T | ENSP00000263826.5:n.47-26830C>T | |
| ENST00000366539.6:c.47-26830C>T | ENSP00000355497.2:n.47-26830C>T | |
| ENST00000491219.6:c.41-26830C>T | ENSP00000499914.1:n.41-26830C>T | |
| ENST00000492957.2:c.47-26830C>T | ENSP00000506695.1:n.47-26830C>T | |
| ENST00000552631.2:n.161-26830C>T | ||
| ENST00000672238.1:c.47-26830C>T | ENSP00000506535.1:n.47-26830C>T | |
| ENST00000672442.1:c.47-26830C>T | ENSP00000500134.1:n.47-26830C>T | |
| ENST00000672578.1:c.-137-26830C>T | ENSP00000500597.1:n.-137-26830C>T | |
| ENST00000672679.1:n.4-26830C>T | ||
| ENST00000673400.1:c.47-26830C>T | ENSP00000504988.1:n.47-26830C>T | |
| ENST00000673466.1:c.47-26830C>T MANE Select | ENSP00000500582.1:n.47-26830C>T | |
| ENST00000680056.1:c.47-57663C>T | ENSP00000505337.1:n.47-57663C>T | |
| ENST00000680118.1:c.47-26830C>T | ENSP00000505276.1:n.47-26830C>T | |
| ENST00000681794.1:c.47-26830C>T | ENSP00000506399.1:n.47-26830C>T | |
| ENST00000263826.9:c.47-26830C>T | ENSP00000263826.5:n.47-26830C>T | |
| ENST00000336199.9:c.47-26830C>T | ENSP00000336943.5:n.47-26830C>T | |
| ENST00000366539.5:c.47-26830C>T | ENSP00000355497.1:n.47-26830C>T | |
| ENST00000366540.5:c.47-26830C>T | ENSP00000355498.1:n.47-26830C>T | |
| ENST00000463991.5:n.185-26830C>T | ||
| ENST00000490018.1:n.538+12412C>T | ||
| ENST00000552631.1:c.47-26830C>T | ENSP00000447820.1:n.47-26830C>T | |
| NM_001206729.1:c.47-26830C>T | NP_001193658.1:n.47-26830C>T | |
| NM_005465.4:c.47-26830C>T | NP_005456.1:n.47-26830C>T | |
| NM_181690.2:c.47-26830C>T | NP_859029.1:n.47-26830C>T | |
| XM_005272994.3:c.47-26830C>T | XP_005273051.1:n.47-26830C>T | |
| XM_005272995.2:c.47-26830C>T | XP_005273052.1:n.47-26830C>T | |
| XM_006711726.2:c.47-26830C>T | XP_006711789.1:n.47-26830C>T | |
| XM_011544011.1:c.47-57663C>T | XP_011542313.1:n.47-57663C>T | |
| XM_011544012.1:c.47-26830C>T | XP_011542314.1:n.47-26830C>T | |
| XM_011544013.1:c.47-26830C>T | XP_011542315.1:n.47-26830C>T | |
| XM_016999985.1:c.-251-26830C>T | XP_016855474.1:n.-251-26830C>T | |
| XM_024446000.1:c.47-26830C>T | XP_024301768.1:n.47-26830C>T | |
| XM_024446892.1:c.47-26830C>T | XP_024302660.1:n.47-26830C>T | |
| XM_024447938.1:c.47-26830C>T | XP_024303706.1:n.47-26830C>T | |
| NM_005465.5:c.47-26830C>T | NP_005456.1:n.47-26830C>T | |
| NM_001370074.1:c.47-26830C>T | NP_001357003.1:n.47-26830C>T | |
| NM_005465.7:c.47-26830C>T MANE Select | NP_005456.1:n.47-26830C>T | |
| NM_001206729.2:c.47-26830C>T | NP_001193658.1:n.47-26830C>T |