Linked Data
dbSNP Id:
rs1484746585
gnomAD v2:
11-68846480-G-T
gnomAD v3:
11-69079012-G-T
gnomAD v4:
11-69079012-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69079012G>T , CM000673.2:g.69079012G>T | GRCh38 |
| NC_000011.9:g.68846480G>T , CM000673.1:g.68846480G>T | GRCh37 |
| NC_000011.8:g.68603056G>T | NCBI36 |
| NG_016153.1:g.35131G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000692585.1:c.388G>T | ENSP00000509200.1:p.Val130Phe | |
| ENST00000294309.8:c.1531G>T MANE Select | ENSP00000294309.3:p.Val511Phe | |
| ENST00000635811.1:c.1531G>T | ENSP00000490341.1:p.Val511Phe | |
| ENST00000637084.1:c.388G>T | ENSP00000490615.1:p.Val130Phe | |
| ENST00000637342.1:c.1531G>T | ENSP00000490171.1:p.Val511Phe | |
| ENST00000637504.1:c.1531G>T | ENSP00000489759.1:p.Val511Phe | |
| ENST00000294309.7:c.1531G>T | ENSP00000294309.3:p.Val511Phe | |
| ENST00000442692.2:n.1124G>T | ||
| ENST00000535009.5:n.1340G>T | ||
| ENST00000542467.1:c.1531G>T | ENSP00000445551.1:p.Val511Phe | |
| NM_139075.3:c.1531G>T | NP_620714.2:p.Val511Phe | |
| XM_005273824.2:c.1528G>T | XP_005273881.1:p.Val510Phe | |
| XM_005273826.2:c.1276G>T | XP_005273883.1:p.Val426Phe | |
| XM_005273827.2:c.1531G>T | XP_005273884.1:p.Val511Phe | |
| XM_005273828.2:c.1531G>T | XP_005273885.1:p.Val511Phe | |
| XM_005273830.2:c.838G>T | XP_005273887.1:p.Val280Phe | |
| XM_005273831.2:c.838G>T | XP_005273888.1:p.Val280Phe | |
| XM_005273832.2:c.808G>T | XP_005273889.1:p.Val270Phe | |
| XM_006718453.2:c.1531G>T | XP_006718516.1:p.Val511Phe | |
| XM_006718454.2:c.1531G>T | XP_006718517.1:p.Val511Phe | |
| XM_006718456.2:c.1531G>T | XP_006718519.1:p.Val511Phe | |
| XM_011544802.1:c.1291G>T | XP_011543104.1:p.Val431Phe | |
| XM_011544803.1:c.1531G>T | XP_011543105.1:p.Val511Phe | |
| XM_011544804.1:c.1531G>T | XP_011543106.1:p.Val511Phe | |
| XM_011544805.1:c.1531G>T | XP_011543107.1:p.Val511Phe | |
| XM_011544806.1:c.1531G>T | XP_011543108.1:p.Val511Phe | |
| XM_011544807.1:c.835G>T | XP_011543109.1:p.Val279Phe | |
| XM_011544808.1:c.700G>T | XP_011543110.1:p.Val234Phe | |
| XR_247191.1:n.1632G>T | ||
| XM_005273824.4:c.1528G>T | XP_005273881.1:p.Val510Phe | |
| XM_005273826.4:c.1276G>T | XP_005273883.1:p.Val426Phe | |
| XM_005273830.4:c.838G>T | XP_005273887.1:p.Val280Phe | |
| XM_005273831.4:c.838G>T | XP_005273888.1:p.Val280Phe | |
| XM_005273832.4:c.808G>T | XP_005273889.1:p.Val270Phe | |
| XM_011544802.3:c.1291G>T | XP_011543104.1:p.Val431Phe | |
| XM_011544807.3:c.835G>T | XP_011543109.1:p.Val279Phe | |
| XM_011544808.3:c.700G>T | XP_011543110.1:p.Val234Phe | |
| XM_017017328.2:c.1362G>T | XP_016872817.1:p.Leu454Phe | |
| XM_017017329.2:c.1359G>T | XP_016872818.1:p.Leu453Phe | |
| XM_017017330.2:c.808G>T | XP_016872819.1:p.Val270Phe | |
| XM_017017331.2:c.808G>T | XP_016872820.1:p.Val270Phe | |
| XM_017017332.2:c.622G>T | XP_016872821.1:p.Val208Phe | |
| XM_017017333.2:c.639G>T | XP_016872822.1:p.Leu213Phe | |
| XM_017017334.2:c.639G>T | XP_016872823.1:p.Leu213Phe | |
| XM_017017335.2:c.639G>T | XP_016872824.1:p.Leu213Phe | |
| XM_017017336.2:c.531G>T | XP_016872825.1:p.Leu177Phe | |
| XM_024448392.1:c.1321G>T | XP_024304160.1:p.Val441Phe | |
| XM_024448393.1:c.808G>T | XP_024304161.1:p.Val270Phe | |
| XR_001747789.2:n.1463G>T | ||
| XR_001747790.2:n.1463G>T | ||
| XR_247191.3:n.1635G>T | ||
| NM_139075.4:c.1531G>T MANE Select | NP_620714.2:p.Val511Phe |