Linked Data
dbSNP Id:
rs369631026
ExAC:
11:68846465 G / A
gnomAD v2:
11-68846465-G-A
gnomAD v3:
11-69078997-G-A
gnomAD v4:
11-69078997-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69078997G>A , CM000673.2:g.69078997G>A | GRCh38 |
| NC_000011.9:g.68846465G>A , CM000673.1:g.68846465G>A | GRCh37 |
| NC_000011.8:g.68603041G>A | NCBI36 |
| NG_016153.1:g.35116G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000692585.1:c.373G>A | ENSP00000509200.1:p.Gly125Arg | |
| ENST00000294309.8:c.1516G>A MANE Select | ENSP00000294309.3:p.Gly506Arg | |
| ENST00000635811.1:c.1516G>A | ENSP00000490341.1:p.Gly506Arg | |
| ENST00000637084.1:c.373G>A | ENSP00000490615.1:p.Gly125Arg | |
| ENST00000637342.1:c.1516G>A | ENSP00000490171.1:p.Gly506Arg | |
| ENST00000637504.1:c.1516G>A | ENSP00000489759.1:p.Gly506Arg | |
| ENST00000294309.7:c.1516G>A | ENSP00000294309.3:p.Gly506Arg | |
| ENST00000442692.2:n.1109G>A | ||
| ENST00000535009.5:n.1325G>A | ||
| ENST00000542467.1:c.1516G>A | ENSP00000445551.1:p.Gly506Arg | |
| NM_139075.3:c.1516G>A | NP_620714.2:p.Gly506Arg | |
| XM_005273824.2:c.1513G>A | XP_005273881.1:p.Gly505Arg | |
| XM_005273826.2:c.1261G>A | XP_005273883.1:p.Gly421Arg | |
| XM_005273827.2:c.1516G>A | XP_005273884.1:p.Gly506Arg | |
| XM_005273828.2:c.1516G>A | XP_005273885.1:p.Gly506Arg | |
| XM_005273830.2:c.823G>A | XP_005273887.1:p.Gly275Arg | |
| XM_005273831.2:c.823G>A | XP_005273888.1:p.Gly275Arg | |
| XM_005273832.2:c.793G>A | XP_005273889.1:p.Gly265Arg | |
| XM_006718453.2:c.1516G>A | XP_006718516.1:p.Gly506Arg | |
| XM_006718454.2:c.1516G>A | XP_006718517.1:p.Gly506Arg | |
| XM_006718456.2:c.1516G>A | XP_006718519.1:p.Gly506Arg | |
| XM_011544802.1:c.1276G>A | XP_011543104.1:p.Gly426Arg | |
| XM_011544803.1:c.1516G>A | XP_011543105.1:p.Gly506Arg | |
| XM_011544804.1:c.1516G>A | XP_011543106.1:p.Gly506Arg | |
| XM_011544805.1:c.1516G>A | XP_011543107.1:p.Gly506Arg | |
| XM_011544806.1:c.1516G>A | XP_011543108.1:p.Gly506Arg | |
| XM_011544807.1:c.820G>A | XP_011543109.1:p.Gly274Arg | |
| XM_011544808.1:c.685G>A | XP_011543110.1:p.Gly229Arg | |
| XR_247191.1:n.1617G>A | ||
| XM_005273824.4:c.1513G>A | XP_005273881.1:p.Gly505Arg | |
| XM_005273826.4:c.1261G>A | XP_005273883.1:p.Gly421Arg | |
| XM_005273830.4:c.823G>A | XP_005273887.1:p.Gly275Arg | |
| XM_005273831.4:c.823G>A | XP_005273888.1:p.Gly275Arg | |
| XM_005273832.4:c.793G>A | XP_005273889.1:p.Gly265Arg | |
| XM_011544802.3:c.1276G>A | XP_011543104.1:p.Gly426Arg | |
| XM_011544807.3:c.820G>A | XP_011543109.1:p.Gly274Arg | |
| XM_011544808.3:c.685G>A | XP_011543110.1:p.Gly229Arg | |
| XM_017017328.2:c.1347G>A | XP_016872817.1:p.Thr449= | |
| XM_017017329.2:c.1344G>A | XP_016872818.1:p.Thr448= | |
| XM_017017330.2:c.793G>A | XP_016872819.1:p.Gly265Arg | |
| XM_017017331.2:c.793G>A | XP_016872820.1:p.Gly265Arg | |
| XM_017017332.2:c.607G>A | XP_016872821.1:p.Gly203Arg | |
| XM_017017333.2:c.624G>A | XP_016872822.1:p.Thr208= | |
| XM_017017334.2:c.624G>A | XP_016872823.1:p.Thr208= | |
| XM_017017335.2:c.624G>A | XP_016872824.1:p.Thr208= | |
| XM_017017336.2:c.516G>A | XP_016872825.1:p.Thr172= | |
| XM_024448392.1:c.1306G>A | XP_024304160.1:p.Gly436Arg | |
| XM_024448393.1:c.793G>A | XP_024304161.1:p.Gly265Arg | |
| XR_001747789.2:n.1448G>A | ||
| XR_001747790.2:n.1448G>A | ||
| XR_247191.3:n.1620G>A | ||
| NM_139075.4:c.1516G>A MANE Select | NP_620714.2:p.Gly506Arg |