Linked Data
dbSNP Id:
rs548084823
ExAC:
11:68846063 C / T
gnomAD v2:
11-68846063-C-T
gnomAD v3:
11-69078595-C-T
gnomAD v4:
11-69078595-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69078595C>T , CM000673.2:g.69078595C>T | GRCh38 |
| NC_000011.9:g.68846063C>T , CM000673.1:g.68846063C>T | GRCh37 |
| NC_000011.8:g.68602639C>T | NCBI36 |
| NG_016153.1:g.34714C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000692585.1:c.201C>T | ENSP00000509200.1:p.Ser67= | |
| ENST00000294309.8:c.1344C>T MANE Select | ENSP00000294309.3:p.Ser448= | |
| ENST00000635811.1:c.1344C>T | ENSP00000490341.1:p.Ser448= | |
| ENST00000637084.1:c.201C>T | ENSP00000490615.1:p.Ser67= | |
| ENST00000637342.1:c.1344C>T | ENSP00000490171.1:p.Ser448= | |
| ENST00000637504.1:c.1344C>T | ENSP00000489759.1:p.Ser448= | |
| ENST00000294309.7:c.1344C>T | ENSP00000294309.3:p.Ser448= | |
| ENST00000442692.2:n.937C>T | ||
| ENST00000535009.5:n.1153C>T | ||
| ENST00000542467.1:c.1344C>T | ENSP00000445551.1:p.Ser448= | |
| NM_139075.3:c.1344C>T | NP_620714.2:p.Ser448= | |
| XM_005273824.2:c.1341C>T | XP_005273881.1:p.Ser447= | |
| XM_005273826.2:c.1089C>T | XP_005273883.1:p.Ser363= | |
| XM_005273827.2:c.1344C>T | XP_005273884.1:p.Ser448= | |
| XM_005273828.2:c.1344C>T | XP_005273885.1:p.Ser448= | |
| XM_005273830.2:c.651C>T | XP_005273887.1:p.Ser217= | |
| XM_005273831.2:c.651C>T | XP_005273888.1:p.Ser217= | |
| XM_005273832.2:c.621C>T | XP_005273889.1:p.Ser207= | |
| XM_006718453.2:c.1344C>T | XP_006718516.1:p.Ser448= | |
| XM_006718454.2:c.1344C>T | XP_006718517.1:p.Ser448= | |
| XM_006718456.2:c.1344C>T | XP_006718519.1:p.Ser448= | |
| XM_011544802.1:c.1104C>T | XP_011543104.1:p.Ser368= | |
| XM_011544803.1:c.1344C>T | XP_011543105.1:p.Ser448= | |
| XM_011544804.1:c.1344C>T | XP_011543106.1:p.Ser448= | |
| XM_011544805.1:c.1344C>T | XP_011543107.1:p.Ser448= | |
| XM_011544806.1:c.1344C>T | XP_011543108.1:p.Ser448= | |
| XM_011544807.1:c.648C>T | XP_011543109.1:p.Ser216= | |
| XM_011544808.1:c.513C>T | XP_011543110.1:p.Ser171= | |
| XR_247191.1:n.1445C>T | ||
| XM_005273824.4:c.1341C>T | XP_005273881.1:p.Ser447= | |
| XM_005273826.4:c.1089C>T | XP_005273883.1:p.Ser363= | |
| XM_005273830.4:c.651C>T | XP_005273887.1:p.Ser217= | |
| XM_005273831.4:c.651C>T | XP_005273888.1:p.Ser217= | |
| XM_005273832.4:c.621C>T | XP_005273889.1:p.Ser207= | |
| XM_011544802.3:c.1104C>T | XP_011543104.1:p.Ser368= | |
| XM_011544807.3:c.648C>T | XP_011543109.1:p.Ser216= | |
| XM_011544808.3:c.513C>T | XP_011543110.1:p.Ser171= | |
| XM_017017328.2:c.1175C>T | XP_016872817.1:p.Pro392Leu | |
| XM_017017329.2:c.1172C>T | XP_016872818.1:p.Pro391Leu | |
| XM_017017330.2:c.621C>T | XP_016872819.1:p.Ser207= | |
| XM_017017331.2:c.621C>T | XP_016872820.1:p.Ser207= | |
| XM_017017332.2:c.435C>T | XP_016872821.1:p.Ser145= | |
| XM_017017333.2:c.452C>T | XP_016872822.1:p.Pro151Leu | |
| XM_017017334.2:c.452C>T | XP_016872823.1:p.Pro151Leu | |
| XM_017017335.2:c.452C>T | XP_016872824.1:p.Pro151Leu | |
| XM_017017336.2:c.344C>T | XP_016872825.1:p.Pro115Leu | |
| XM_024448392.1:c.1134C>T | XP_024304160.1:p.Ser378= | |
| XM_024448393.1:c.621C>T | XP_024304161.1:p.Ser207= | |
| XR_001747789.2:n.1276C>T | ||
| XR_001747790.2:n.1276C>T | ||
| XR_247191.3:n.1448C>T | ||
| NM_139075.4:c.1344C>T MANE Select | NP_620714.2:p.Ser448= |