Linked Data
dbSNP Id:
rs770118313
ExAC:
11:6638232 T / C
gnomAD v2:
11-6638232-T-C
gnomAD v4:
11-6617001-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617001T>C , CM000673.2:g.6617001T>C | GRCh38 |
| NC_000011.9:g.6638232T>C , CM000673.1:g.6638232T>C | GRCh37 |
| NC_000011.8:g.6594808T>C | NCBI36 |
| NG_008653.1:g.7461A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.547A>G | ENSP00000507321.1:p.Ser183Gly | |
| ENST00000299427.12:c.661A>G MANE Select | ENSP00000299427.6:p.Ser221Gly | |
| ENST00000436873.7:c.312+300A>G | ||
| ENST00000524788.2:n.1820A>G | ||
| ENST00000524903.2:n.1936A>G | ||
| ENST00000528807.2:n.317A>G | ||
| ENST00000530040.2:n.479+358A>G | ||
| ENST00000533371.6:c.-69A>G | ENSP00000437066.1:n.-69A>G | |
| ENST00000534644.6:n.609A>G | ||
| ENST00000642892.1:c.-69A>G | ENSP00000494165.1:n.-69A>G | |
| ENST00000643439.1:c.*401A>G | ENSP00000495849.1:n.*401A>G | |
| ENST00000643479.1:n.690A>G | ||
| ENST00000643516.1:c.395+300A>G | ||
| ENST00000644151.1:n.2100A>G | ||
| ENST00000644218.1:c.661A>G | ENSP00000493574.1:p.Ser221Gly | |
| ENST00000644683.1:c.*114A>G | ENSP00000494085.1:n.*114A>G | |
| ENST00000644810.1:c.382A>G | ENSP00000495895.1:p.Ser128Gly | |
| ENST00000644831.1:n.837A>G | ||
| ENST00000644933.1:c.-69A>G | ENSP00000496133.1:n.-69A>G | |
| ENST00000645020.1:n.1836A>G | ||
| ENST00000645285.1:c.-69A>G | ENSP00000495058.1:n.-69A>G | |
| ENST00000645331.1:n.1027A>G | ||
| ENST00000645620.1:c.-69A>G | ENSP00000493657.1:n.-69A>G | |
| ENST00000646777.1:n.837A>G | ||
| ENST00000647016.1:n.1141A>G | ||
| ENST00000647152.1:c.-69A>G | ENSP00000495893.1:n.-69A>G | |
| ENST00000647209.1:c.*530A>G | ENSP00000495558.1:n.*530A>G | |
| ENST00000647346.1:n.1681A>G | ||
| ENST00000299427.10:c.661A>G | ENSP00000299427.6:p.Ser221Gly | |
| ENST00000428886.6:n.830A>G | ||
| ENST00000436873.6:c.450+358A>G | ENSP00000398136.2:n.450+358A>G | |
| ENST00000524788.1:n.361A>G | ||
| ENST00000528571.5:c.*401A>G | ENSP00000434647.1:n.*401A>G | |
| ENST00000528807.1:n.211A>G | ||
| ENST00000533371.5:c.-69A>G | ENSP00000437066.1:n.-69A>G | |
| ENST00000611494.4:c.661A>G | ENSP00000484546.1:p.Ser221Gly | |
| NM_000391.3:c.661A>G | NP_000382.3:p.Ser221Gly | |
| NM_000391.4:c.661A>G MANE Select | NP_000382.3:p.Ser221Gly |