Linked Data
dbSNP Id:
rs111810948
ExAC:
11:100933344 C / T
gnomAD v2:
11-100933344-C-T
gnomAD v4:
11-101062613-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.101062613C>T , CM000673.2:g.101062613C>T | GRCh38 |
| NC_000011.9:g.100933344C>T , CM000673.1:g.100933344C>T | GRCh37 |
| NC_000011.8:g.100438554C>T | NCBI36 |
| NG_016475.1:g.72201G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325455.10:c.2046G>A MANE Select | ENSP00000325120.5:p.Gln682= | |
| ENST00000263463.9:c.1907-11045G>A | ENSP00000263463.5:n.1907-11045G>A | |
| ENST00000325455.9:c.2046G>A | ENSP00000325120.5:p.Gln682= | |
| ENST00000526300.5:c.1907-11045G>A | ENSP00000436803.1:n.1907-11045G>A | |
| ENST00000528960.5:c.1929G>A | ENSP00000432914.1:p.Gln643= | |
| ENST00000533207.5:n.1413G>A | ||
| ENST00000534013.5:c.264G>A | ENSP00000436561.1:p.Gln88= | |
| ENST00000534780.5:c.2046G>A | ENSP00000432352.1:p.Gln682= | |
| ENST00000617858.4:c.1907-11045G>A | ENSP00000481227.1:n.1907-11045G>A | |
| ENST00000619228.2:c.1929G>A | ENSP00000482698.1:p.Gln643= | |
| ENST00000632634.1:c.468G>A | ENSP00000487607.1:p.Gln156= | |
| NM_000926.4:c.2046G>A MANE Select | NP_000917.3:p.Gln682= | |
| NM_001202474.3:c.1554G>A | NP_001189403.1:p.Gln518= | |
| NM_001271161.2:c.1415-11045G>A | NP_001258090.1:n.1415-11045G>A | |
| NM_001271162.1:c.264G>A | NP_001258091.1:p.Gln88= | |
| NR_073141.2:n.2039G>A | ||
| NR_073142.2:n.1922G>A | ||
| NR_073143.2:n.1900-11045G>A | ||
| XM_006718858.2:c.2046G>A | XP_006718921.1:p.Gln682= | |
| XR_947831.1:n.3618G>A | ||
| XM_006718858.3:c.2046G>A | XP_006718921.1:p.Gln682= | |
| NM_001271162.2:c.264G>A | NP_001258091.1:p.Gln88= | |
| NR_073141.3:n.2053G>A | ||
| NR_073142.3:n.1936G>A | ||
| NR_073143.3:n.1914-11045G>A |