Linked Data
dbSNP Id:
rs768769081
ExAC:
11:100933403 G / A
gnomAD v2:
11-100933403-G-A
gnomAD v4:
11-101062672-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.101062672G>A , CM000673.2:g.101062672G>A | GRCh38 |
| NC_000011.9:g.100933403G>A , CM000673.1:g.100933403G>A | GRCh37 |
| NC_000011.8:g.100438613G>A | NCBI36 |
| NG_016475.1:g.72142C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325455.10:c.1987C>T MANE Select | ENSP00000325120.5:p.Pro663Ser | |
| ENST00000263463.9:c.1907-11104C>T | ENSP00000263463.5:n.1907-11104C>T | |
| ENST00000325455.9:c.1987C>T | ENSP00000325120.5:p.Pro663Ser | |
| ENST00000526300.5:c.1907-11104C>T | ENSP00000436803.1:n.1907-11104C>T | |
| ENST00000528960.5:c.1870C>T | ENSP00000432914.1:p.Pro624Ser | |
| ENST00000533207.5:n.1354C>T | ||
| ENST00000534013.5:c.205C>T | ENSP00000436561.1:p.Pro69Ser | |
| ENST00000534780.5:c.1987C>T | ENSP00000432352.1:p.Pro663Ser | |
| ENST00000617858.4:c.1907-11104C>T | ENSP00000481227.1:n.1907-11104C>T | |
| ENST00000619228.2:c.1870C>T | ENSP00000482698.1:p.Pro624Ser | |
| ENST00000632634.1:c.409C>T | ENSP00000487607.1:p.Pro137Ser | |
| NM_000926.4:c.1987C>T MANE Select | NP_000917.3:p.Pro663Ser | |
| NM_001202474.3:c.1495C>T | NP_001189403.1:p.Pro499Ser | |
| NM_001271161.2:c.1415-11104C>T | NP_001258090.1:n.1415-11104C>T | |
| NM_001271162.1:c.205C>T | NP_001258091.1:p.Pro69Ser | |
| NR_073141.2:n.1980C>T | ||
| NR_073142.2:n.1863C>T | ||
| NR_073143.2:n.1900-11104C>T | ||
| XM_006718858.2:c.1987C>T | XP_006718921.1:p.Pro663Ser | |
| XR_947831.1:n.3559C>T | ||
| XM_006718858.3:c.1987C>T | XP_006718921.1:p.Pro663Ser | |
| NM_001271162.2:c.205C>T | NP_001258091.1:p.Pro69Ser | |
| NR_073141.3:n.1994C>T | ||
| NR_073142.3:n.1877C>T | ||
| NR_073143.3:n.1914-11104C>T |