Linked Data
dbSNP Id:
rs756773331
ExAC:
16:10995951 T / C
gnomAD v2:
16-10995951-T-C
gnomAD v4:
16-10902094-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.10902094T>C , CM000678.2:g.10902094T>C | GRCh38 |
| NC_000016.9:g.10995951T>C , CM000678.1:g.10995951T>C | GRCh37 |
| NC_000016.8:g.10903452T>C | NCBI36 |
| NG_009628.1:g.29897T>C , LRG_49:g.29897T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695879.1:n.563T>C | ||
| ENST00000324288.14:c.538T>C MANE Select | ENSP00000316328.8:p.Ser180Pro | |
| ENST00000637439.1:c.772T>C | ENSP00000489907.1:p.Ser258Pro | |
| ENST00000324288.12:c.538T>C | ENSP00000316328.8:p.Ser180Pro | |
| ENST00000381835.9:c.481+536T>C | ENSP00000371257.5:n.481+536T>C | |
| ENST00000537380.1:n.538T>C | ||
| ENST00000570546.5:n.659T>C | ||
| ENST00000571186.5:c.*259T>C | ENSP00000459829.1:n.*259T>C | |
| ENST00000573309.5:n.599+536T>C | ||
| ENST00000576601.1:c.466T>C | ENSP00000459608.1:p.Ser156Pro | |
| ENST00000611587.4:c.484+536T>C | ENSP00000483487.1:n.484+536T>C | |
| ENST00000618207.4:c.538T>C | ENSP00000484761.1:p.Ser180Pro | |
| ENST00000618327.4:c.541T>C | ENSP00000485010.1:p.Ser181Pro | |
| NM_000246.3:c.538T>C , LRG_49t1:c.538T>C | NP_000237.2:p.Ser180Pro | |
| NM_001286402.1:c.541T>C | NP_001273331.1:p.Ser181Pro | |
| NM_001286403.1:c.481+536T>C | NP_001273332.1:n.481+536T>C | |
| NR_104444.1:n.671T>C | ||
| XM_006720880.2:c.835T>C | XP_006720943.2:p.Ser279Pro | |
| XM_011522484.1:c.835T>C | XP_011520786.1:p.Ser279Pro | |
| XM_011522485.1:c.835T>C | XP_011520787.1:p.Ser279Pro | |
| XM_011522486.1:c.835T>C | XP_011520788.1:p.Ser279Pro | |
| XM_011522487.1:c.679+536T>C | XP_011520789.1:n.679+536T>C | |
| XM_011522488.1:c.586T>C | XP_011520790.1:p.Ser196Pro | |
| XM_011522489.1:c.676+536T>C | XP_011520791.1:n.676+536T>C | |
| XM_011522490.1:c.583T>C | XP_011520792.1:p.Ser195Pro | |
| XM_011522491.1:c.835T>C | XP_011520793.1:p.Ser279Pro | |
| XM_011522492.1:c.541T>C | XP_011520794.1:p.Ser181Pro | |
| XM_011522493.1:c.538T>C | XP_011520795.1:p.Ser180Pro | |
| XM_011522494.1:c.469T>C | XP_011520796.1:p.Ser157Pro | |
| XM_011522495.1:c.484+536T>C | XP_011520797.1:n.484+536T>C | |
| XM_011522496.1:c.481+536T>C | XP_011520798.1:n.481+536T>C | |
| XR_932841.1:n.850T>C | ||
| XR_932842.1:n.850T>C | ||
| XR_932843.1:n.850T>C | ||
| XR_932846.1:n.850T>C | ||
| XR_932847.1:n.850T>C | ||
| XR_932848.1:n.631+536T>C | ||
| XM_006720880.3:c.835T>C | XP_006720943.2:p.Ser279Pro | |
| XM_011522484.3:c.835T>C | XP_011520786.1:p.Ser279Pro | |
| XM_011522485.2:c.835T>C | XP_011520787.1:p.Ser279Pro | |
| XM_011522486.2:c.835T>C | XP_011520788.1:p.Ser279Pro | |
| XM_011522487.2:c.679+536T>C | XP_011520789.1:n.679+536T>C | |
| XM_011522488.2:c.586T>C | XP_011520790.1:p.Ser196Pro | |
| XM_011522489.2:c.676+536T>C | XP_011520791.1:n.676+536T>C | |
| XM_011522490.2:c.583T>C | XP_011520792.1:p.Ser195Pro | |
| XM_011522491.2:c.835T>C | XP_011520793.1:p.Ser279Pro | |
| XM_011522492.2:c.541T>C | XP_011520794.1:p.Ser181Pro | |
| XM_011522493.2:c.538T>C | XP_011520795.1:p.Ser180Pro | |
| XM_011522494.2:c.469T>C | XP_011520796.1:p.Ser157Pro | |
| XM_011522495.2:c.484+536T>C | XP_011520797.1:n.484+536T>C | |
| XM_011522496.2:c.481+536T>C | XP_011520798.1:n.481+536T>C | |
| XM_024450280.1:c.781T>C | XP_024306048.1:p.Ser261Pro | |
| XM_024450281.1:c.724+536T>C | XP_024306049.1:n.724+536T>C | |
| XR_001751904.1:n.854T>C | ||
| XR_932841.3:n.852T>C | ||
| XR_932842.2:n.852T>C | ||
| XR_932846.3:n.854T>C | ||
| XR_932847.3:n.854T>C | ||
| NM_001286403.2:c.481+536T>C | NP_001273332.1:n.481+536T>C | |
| NR_104444.2:n.667T>C | ||
| NM_000246.4:c.538T>C MANE Select | NP_000237.2:p.Ser180Pro | |
| NM_001379330.1:c.484+536T>C | NP_001366259.1:n.484+536T>C | |
| NM_001379331.1:c.481+536T>C | NP_001366260.1:n.481+536T>C | |
| NM_001379332.1:c.541T>C | NP_001366261.1:p.Ser181Pro | |
| NM_001379333.1:c.538T>C | NP_001366262.1:p.Ser180Pro | |
| NM_001379334.1:c.469T>C | NP_001366263.1:p.Ser157Pro |