Linked Data
dbSNP Id:
rs745549119
ExAC:
12:39703499 T / C
gnomAD v2:
12-39703499-T-C
gnomAD v4:
12-39309697-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.39309697T>C , CM000674.2:g.39309697T>C | GRCh38 |
| NC_000012.11:g.39703499T>C , CM000674.1:g.39703499T>C | GRCh37 |
| NC_000012.10:g.37989766T>C | NCBI36 |
| NG_017067.1:g.138694A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361418.10:c.4166A>G MANE Select | ENSP00000354878.5:p.Asn1389Ser | |
| ENST00000636569.1:c.4103A>G | ENSP00000490369.1:p.Asn1368Ser | |
| ENST00000361418.9:c.4166A>G | ENSP00000354878.5:p.Asn1389Ser | |
| ENST00000361961.7:c.4127A>G | ENSP00000354851.3:p.Asn1376Ser | |
| ENST00000541463.6:c.4007A>G | ENSP00000438075.2:p.Asn1336Ser | |
| ENST00000544797.6:c.4055A>G | ENSP00000445606.2:p.Asn1352Ser | |
| ENST00000547733.1:n.1480A>G | ||
| ENST00000551264.5:c.1109A>G | ENSP00000448792.1:p.Asn370Ser | |
| ENST00000552961.5:c.2068A>G | ||
| NM_001173463.1:c.4055A>G | NP_001166934.1:p.Asn1352Ser | |
| NM_001173464.1:c.4166A>G | NP_001166935.1:p.Asn1389Ser | |
| NM_001173465.1:c.4007A>G | NP_001166936.1:p.Asn1336Ser | |
| NM_017641.3:c.4127A>G | NP_060111.2:p.Asn1376Ser | |
| XM_005269007.1:c.4169A>G | XP_005269064.1:p.Asn1390Ser | |
| XM_005269008.1:c.4154A>G | XP_005269065.1:p.Asn1385Ser | |
| XM_005269009.1:c.4148A>G | XP_005269066.1:p.Asn1383Ser | |
| XM_005269010.1:c.4130A>G | XP_005269067.1:p.Asn1377Ser | |
| XM_005269011.1:c.4115A>G | XP_005269068.1:p.Asn1372Ser | |
| XM_005269012.1:c.4040A>G | XP_005269069.1:p.Asn1347Ser | |
| XM_005269013.1:c.4025A>G | XP_005269070.1:p.Asn1342Ser | |
| XM_005269014.1:c.3986A>G | XP_005269071.1:p.Asn1329Ser | |
| XM_006719493.1:c.4109A>G | XP_006719556.1:p.Asn1370Ser | |
| XM_006719494.1:c.4037A>G | XP_006719557.1:p.Asn1346Ser | |
| XM_006719496.1:c.4094A>G | XP_006719559.1:p.Asn1365Ser | |
| XM_011538556.1:c.4100A>G | XP_011536858.1:p.Asn1367Ser | |
| XM_005269007.3:c.4169A>G | XP_005269064.1:p.Asn1390Ser | |
| XM_005269008.3:c.4154A>G | XP_005269065.1:p.Asn1385Ser | |
| XM_005269009.3:c.4148A>G | XP_005269066.1:p.Asn1383Ser | |
| XM_005269010.3:c.4130A>G | XP_005269067.1:p.Asn1377Ser | |
| XM_005269011.3:c.4115A>G | XP_005269068.1:p.Asn1372Ser | |
| XM_005269012.3:c.4040A>G | XP_005269069.1:p.Asn1347Ser | |
| XM_005269013.3:c.4025A>G | XP_005269070.1:p.Asn1342Ser | |
| XM_005269014.3:c.3986A>G | XP_005269071.1:p.Asn1329Ser | |
| XM_006719493.3:c.4109A>G | XP_006719556.1:p.Asn1370Ser | |
| XM_006719494.3:c.4037A>G | XP_006719557.1:p.Asn1346Ser | |
| XM_011538556.3:c.4100A>G | XP_011536858.1:p.Asn1367Ser | |
| XM_017019607.2:c.4115A>G | XP_016875096.1:p.Asn1372Ser | |
| XM_017019608.2:c.4076A>G | XP_016875097.1:p.Asn1359Ser | |
| XM_017019609.2:c.3965A>G | XP_016875098.1:p.Asn1322Ser | |
| XM_017019610.2:c.3965A>G | XP_016875099.1:p.Asn1322Ser | |
| XM_017019611.2:c.3947A>G | XP_016875100.1:p.Asn1316Ser | |
| NM_001173463.2:c.4055A>G | NP_001166934.1:p.Asn1352Ser | |
| NM_001173464.2:c.4166A>G MANE Select | NP_001166935.1:p.Asn1389Ser | |
| NM_001173465.2:c.4007A>G | NP_001166936.1:p.Asn1336Ser | |
| NM_017641.4:c.4127A>G | NP_060111.2:p.Asn1376Ser | |
| NM_001378439.1:c.4169A>G | NP_001365368.1:p.Asn1390Ser | |
| NM_001378440.1:c.4154A>G | NP_001365369.1:p.Asn1385Ser | |
| NM_001378441.1:c.4130A>G | NP_001365370.1:p.Asn1377Ser |