Linked Data
dbSNP Id:
rs543215
gnomAD v2:
11-100974033-G-A
gnomAD v3:
11-101103302-G-A
gnomAD v4:
11-101103302-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.101103302G>A , CM000673.2:g.101103302G>A | GRCh38 |
| NC_000011.9:g.100974033G>A , CM000673.1:g.100974033G>A | GRCh37 |
| NC_000011.8:g.100479243G>A | NCBI36 |
| NG_016475.1:g.31512C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000325455.10:c.1790-11426C>T MANE Select | ENSP00000325120.5:n.1790-11426C>T | |
| ENST00000263463.9:c.1790-11426C>T | ENSP00000263463.5:n.1790-11426C>T | |
| ENST00000325455.9:c.1790-11426C>T | ENSP00000325120.5:n.1790-11426C>T | |
| ENST00000526300.5:c.1790-11426C>T | ENSP00000436803.1:n.1790-11426C>T | |
| ENST00000528960.5:c.1789+22705C>T | ENSP00000432914.1:n.1789+22705C>T | |
| ENST00000534013.5:c.8-11426C>T | ENSP00000436561.1:n.8-11426C>T | |
| ENST00000534780.5:c.1790-11426C>T | ENSP00000432352.1:n.1790-11426C>T | |
| ENST00000617858.4:c.1790-11426C>T | ENSP00000481227.1:n.1790-11426C>T | |
| ENST00000619228.2:c.1789+22705C>T | ENSP00000482698.1:n.1789+22705C>T | |
| ENST00000632634.1:c.212-11426C>T | ENSP00000487607.1:n.212-11426C>T | |
| NM_000926.4:c.1790-11426C>T MANE Select | NP_000917.3:n.1790-11426C>T | |
| NM_001202474.3:c.1298-11426C>T | NP_001189403.1:n.1298-11426C>T | |
| NM_001271161.2:c.1298-11426C>T | NP_001258090.1:n.1298-11426C>T | |
| NM_001271162.1:c.8-11426C>T | NP_001258091.1:n.8-11426C>T | |
| NR_073141.2:n.1783-11426C>T | ||
| NR_073142.2:n.1782+22705C>T | ||
| NR_073143.2:n.1783-11426C>T | ||
| XM_006718858.2:c.1790-11426C>T | XP_006718921.1:n.1790-11426C>T | |
| XR_947831.1:n.3362-11426C>T | ||
| XM_006718858.3:c.1790-11426C>T | XP_006718921.1:n.1790-11426C>T | |
| NM_001271162.2:c.8-11426C>T | NP_001258091.1:n.8-11426C>T | |
| NR_073141.3:n.1797-11426C>T | ||
| NR_073142.3:n.1796+22705C>T | ||
| NR_073143.3:n.1797-11426C>T |