Linked Data
dbSNP Id:
rs368922472
ExAC:
11:68846389 C / A
gnomAD v2:
11-68846389-C-A
gnomAD v3:
11-69078921-C-A
gnomAD v4:
11-69078921-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69078921C>A , CM000673.2:g.69078921C>A | GRCh38 |
| NC_000011.9:g.68846389C>A , CM000673.1:g.68846389C>A | GRCh37 |
| NC_000011.8:g.68602965C>A | NCBI36 |
| NG_016153.1:g.35040C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000692585.1:c.297C>A | ENSP00000509200.1:p.Tyr99Ter | |
| ENST00000294309.8:c.1440C>A MANE Select | ENSP00000294309.3:p.Tyr480Ter | |
| ENST00000635811.1:c.1440C>A | ENSP00000490341.1:p.Tyr480Ter | |
| ENST00000637084.1:c.297C>A | ENSP00000490615.1:p.Tyr99Ter | |
| ENST00000637342.1:c.1440C>A | ENSP00000490171.1:p.Tyr480Ter | |
| ENST00000637504.1:c.1440C>A | ENSP00000489759.1:p.Tyr480Ter | |
| ENST00000294309.7:c.1440C>A | ENSP00000294309.3:p.Tyr480Ter | |
| ENST00000442692.2:n.1033C>A | ||
| ENST00000535009.5:n.1249C>A | ||
| ENST00000542467.1:c.1440C>A | ENSP00000445551.1:p.Tyr480Ter | |
| NM_139075.3:c.1440C>A | NP_620714.2:p.Tyr480Ter | |
| XM_005273824.2:c.1437C>A | XP_005273881.1:p.Tyr479Ter | |
| XM_005273826.2:c.1185C>A | XP_005273883.1:p.Tyr395Ter | |
| XM_005273827.2:c.1440C>A | XP_005273884.1:p.Tyr480Ter | |
| XM_005273828.2:c.1440C>A | XP_005273885.1:p.Tyr480Ter | |
| XM_005273830.2:c.747C>A | XP_005273887.1:p.Tyr249Ter | |
| XM_005273831.2:c.747C>A | XP_005273888.1:p.Tyr249Ter | |
| XM_005273832.2:c.717C>A | XP_005273889.1:p.Tyr239Ter | |
| XM_006718453.2:c.1440C>A | XP_006718516.1:p.Tyr480Ter | |
| XM_006718454.2:c.1440C>A | XP_006718517.1:p.Tyr480Ter | |
| XM_006718456.2:c.1440C>A | XP_006718519.1:p.Tyr480Ter | |
| XM_011544802.1:c.1200C>A | XP_011543104.1:p.Tyr400Ter | |
| XM_011544803.1:c.1440C>A | XP_011543105.1:p.Tyr480Ter | |
| XM_011544804.1:c.1440C>A | XP_011543106.1:p.Tyr480Ter | |
| XM_011544805.1:c.1440C>A | XP_011543107.1:p.Tyr480Ter | |
| XM_011544806.1:c.1440C>A | XP_011543108.1:p.Tyr480Ter | |
| XM_011544807.1:c.744C>A | XP_011543109.1:p.Tyr248Ter | |
| XM_011544808.1:c.609C>A | XP_011543110.1:p.Tyr203Ter | |
| XR_247191.1:n.1541C>A | ||
| XM_005273824.4:c.1437C>A | XP_005273881.1:p.Tyr479Ter | |
| XM_005273826.4:c.1185C>A | XP_005273883.1:p.Tyr395Ter | |
| XM_005273830.4:c.747C>A | XP_005273887.1:p.Tyr249Ter | |
| XM_005273831.4:c.747C>A | XP_005273888.1:p.Tyr249Ter | |
| XM_005273832.4:c.717C>A | XP_005273889.1:p.Tyr239Ter | |
| XM_011544802.3:c.1200C>A | XP_011543104.1:p.Tyr400Ter | |
| XM_011544807.3:c.744C>A | XP_011543109.1:p.Tyr248Ter | |
| XM_011544808.3:c.609C>A | XP_011543110.1:p.Tyr203Ter | |
| XM_017017328.2:c.1271C>A | XP_016872817.1:p.Thr424Asn | |
| XM_017017329.2:c.1268C>A | XP_016872818.1:p.Thr423Asn | |
| XM_017017330.2:c.717C>A | XP_016872819.1:p.Tyr239Ter | |
| XM_017017331.2:c.717C>A | XP_016872820.1:p.Tyr239Ter | |
| XM_017017332.2:c.531C>A | XP_016872821.1:p.Tyr177Ter | |
| XM_017017333.2:c.548C>A | XP_016872822.1:p.Thr183Asn | |
| XM_017017334.2:c.548C>A | XP_016872823.1:p.Thr183Asn | |
| XM_017017335.2:c.548C>A | XP_016872824.1:p.Thr183Asn | |
| XM_017017336.2:c.440C>A | XP_016872825.1:p.Thr147Asn | |
| XM_024448392.1:c.1230C>A | XP_024304160.1:p.Tyr410Ter | |
| XM_024448393.1:c.717C>A | XP_024304161.1:p.Tyr239Ter | |
| XR_001747789.2:n.1372C>A | ||
| XR_001747790.2:n.1372C>A | ||
| XR_247191.3:n.1544C>A | ||
| NM_139075.4:c.1440C>A MANE Select | NP_620714.2:p.Tyr480Ter |