Linked Data
dbSNP Id:
rs773165283
ExAC:
11:68846048 G / C
gnomAD v2:
11-68846048-G-C
gnomAD v3:
11-69078580-G-C
gnomAD v4:
11-69078580-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69078580G>C , CM000673.2:g.69078580G>C | GRCh38 |
| NC_000011.9:g.68846048G>C , CM000673.1:g.68846048G>C | GRCh37 |
| NC_000011.8:g.68602624G>C | NCBI36 |
| NG_016153.1:g.34699G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000692585.1:c.186G>C | ENSP00000509200.1:p.Leu62= | |
| ENST00000294309.8:c.1329G>C MANE Select | ENSP00000294309.3:p.Leu443= | |
| ENST00000635811.1:c.1329G>C | ENSP00000490341.1:p.Leu443= | |
| ENST00000637084.1:c.186G>C | ENSP00000490615.1:p.Leu62= | |
| ENST00000637342.1:c.1329G>C | ENSP00000490171.1:p.Leu443= | |
| ENST00000637504.1:c.1329G>C | ENSP00000489759.1:p.Leu443= | |
| ENST00000294309.7:c.1329G>C | ENSP00000294309.3:p.Leu443= | |
| ENST00000442692.2:n.922G>C | ||
| ENST00000535009.5:n.1138G>C | ||
| ENST00000542467.1:c.1329G>C | ENSP00000445551.1:p.Leu443= | |
| NM_139075.3:c.1329G>C | NP_620714.2:p.Leu443= | |
| XM_005273824.2:c.1326G>C | XP_005273881.1:p.Leu442= | |
| XM_005273826.2:c.1074G>C | XP_005273883.1:p.Leu358= | |
| XM_005273827.2:c.1329G>C | XP_005273884.1:p.Leu443= | |
| XM_005273828.2:c.1329G>C | XP_005273885.1:p.Leu443= | |
| XM_005273830.2:c.636G>C | XP_005273887.1:p.Leu212= | |
| XM_005273831.2:c.636G>C | XP_005273888.1:p.Leu212= | |
| XM_005273832.2:c.606G>C | XP_005273889.1:p.Leu202= | |
| XM_006718453.2:c.1329G>C | XP_006718516.1:p.Leu443= | |
| XM_006718454.2:c.1329G>C | XP_006718517.1:p.Leu443= | |
| XM_006718456.2:c.1329G>C | XP_006718519.1:p.Leu443= | |
| XM_011544802.1:c.1089G>C | XP_011543104.1:p.Leu363= | |
| XM_011544803.1:c.1329G>C | XP_011543105.1:p.Leu443= | |
| XM_011544804.1:c.1329G>C | XP_011543106.1:p.Leu443= | |
| XM_011544805.1:c.1329G>C | XP_011543107.1:p.Leu443= | |
| XM_011544806.1:c.1329G>C | XP_011543108.1:p.Leu443= | |
| XM_011544807.1:c.633G>C | XP_011543109.1:p.Leu211= | |
| XM_011544808.1:c.498G>C | XP_011543110.1:p.Leu166= | |
| XR_247191.1:n.1430G>C | ||
| XM_005273824.4:c.1326G>C | XP_005273881.1:p.Leu442= | |
| XM_005273826.4:c.1074G>C | XP_005273883.1:p.Leu358= | |
| XM_005273830.4:c.636G>C | XP_005273887.1:p.Leu212= | |
| XM_005273831.4:c.636G>C | XP_005273888.1:p.Leu212= | |
| XM_005273832.4:c.606G>C | XP_005273889.1:p.Leu202= | |
| XM_011544802.3:c.1089G>C | XP_011543104.1:p.Leu363= | |
| XM_011544807.3:c.633G>C | XP_011543109.1:p.Leu211= | |
| XM_011544808.3:c.498G>C | XP_011543110.1:p.Leu166= | |
| XM_017017328.2:c.1160G>C | XP_016872817.1:p.Trp387Ser | |
| XM_017017329.2:c.1157G>C | XP_016872818.1:p.Trp386Ser | |
| XM_017017330.2:c.606G>C | XP_016872819.1:p.Leu202= | |
| XM_017017331.2:c.606G>C | XP_016872820.1:p.Leu202= | |
| XM_017017332.2:c.420G>C | XP_016872821.1:p.Leu140= | |
| XM_017017333.2:c.437G>C | XP_016872822.1:p.Trp146Ser | |
| XM_017017334.2:c.437G>C | XP_016872823.1:p.Trp146Ser | |
| XM_017017335.2:c.437G>C | XP_016872824.1:p.Trp146Ser | |
| XM_017017336.2:c.329G>C | XP_016872825.1:p.Trp110Ser | |
| XM_024448392.1:c.1119G>C | XP_024304160.1:p.Leu373= | |
| XM_024448393.1:c.606G>C | XP_024304161.1:p.Leu202= | |
| XR_001747789.2:n.1261G>C | ||
| XR_001747790.2:n.1261G>C | ||
| XR_247191.3:n.1433G>C | ||
| NM_139075.4:c.1329G>C MANE Select | NP_620714.2:p.Leu443= |