Linked Data
ClinVar Variation Id:
1102116
ClinVar RCV Id:
RCV001425330
dbSNP Id:
rs1332434918
gnomAD v3:
16-10909143-C-T
gnomAD v4:
16-10909143-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.10909143C>T , CM000678.2:g.10909143C>T | GRCh38 |
| NC_000016.9:g.11003000C>T , CM000678.1:g.11003000C>T | GRCh37 |
| NC_000016.8:g.10910501C>T | NCBI36 |
| NG_009628.1:g.36946C>T , LRG_49:g.36946C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324288.14:c.2772C>T MANE Select | ENSP00000316328.8:p.Ser924= | |
| ENST00000324288.12:c.2772C>T | ENSP00000316328.8:p.Ser924= | |
| ENST00000381835.9:c.1020C>T | ENSP00000371257.5:p.Ser340= | |
| ENST00000537380.1:n.1007-1045C>T | ||
| ENST00000570546.5:n.3772C>T | ||
| ENST00000618207.4:c.1007-1045C>T | ENSP00000484761.1:n.1007-1045C>T | |
| ENST00000618327.4:c.2775C>T | ENSP00000485010.1:p.Ser925= | |
| NM_000246.3:c.2772C>T , LRG_49t1:c.2772C>T | NP_000237.2:p.Ser924= | |
| NM_001286402.1:c.2775C>T | NP_001273331.1:p.Ser925= | |
| NM_001286403.1:c.1020C>T | NP_001273332.1:p.Ser340= | |
| NR_104444.1:n.1140-1045C>T | ||
| XM_006720880.2:c.3069C>T | XP_006720943.2:p.Ser1023= | |
| XM_011522484.1:c.3069C>T | XP_011520786.1:p.Ser1023= | |
| XM_011522485.1:c.3069C>T | XP_011520787.1:p.Ser1023= | |
| XM_011522486.1:c.3069C>T | XP_011520788.1:p.Ser1023= | |
| XM_011522487.1:c.2823C>T | XP_011520789.1:p.Ser941= | |
| XM_011522488.1:c.2820C>T | XP_011520790.1:p.Ser940= | |
| XM_011522489.1:c.2820C>T | XP_011520791.1:p.Ser940= | |
| XM_011522490.1:c.2817C>T | XP_011520792.1:p.Ser939= | |
| XM_011522491.1:c.3069C>T | XP_011520793.1:p.Ser1023= | |
| XM_011522492.1:c.2775C>T | XP_011520794.1:p.Ser925= | |
| XM_011522493.1:c.2772C>T | XP_011520795.1:p.Ser924= | |
| XM_011522494.1:c.2703C>T | XP_011520796.1:p.Ser901= | |
| XM_011522495.1:c.2628C>T | XP_011520797.1:p.Ser876= | |
| XM_011522496.1:c.2625C>T | XP_011520798.1:p.Ser875= | |
| XR_932841.1:n.3084C>T | ||
| XR_932842.1:n.3084C>T | ||
| XR_932843.1:n.3084C>T | ||
| XR_932846.1:n.3130C>T | ||
| XR_932847.1:n.3130C>T | ||
| XR_932848.1:n.1170C>T | ||
| XM_006720880.3:c.3069C>T | XP_006720943.2:p.Ser1023= | |
| XM_011522484.3:c.3069C>T | XP_011520786.1:p.Ser1023= | |
| XM_011522485.2:c.3069C>T | XP_011520787.1:p.Ser1023= | |
| XM_011522486.2:c.3069C>T | XP_011520788.1:p.Ser1023= | |
| XM_011522487.2:c.2823C>T | XP_011520789.1:p.Ser941= | |
| XM_011522488.2:c.2820C>T | XP_011520790.1:p.Ser940= | |
| XM_011522489.2:c.2820C>T | XP_011520791.1:p.Ser940= | |
| XM_011522490.2:c.2817C>T | XP_011520792.1:p.Ser939= | |
| XM_011522491.2:c.3069C>T | XP_011520793.1:p.Ser1023= | |
| XM_011522492.2:c.2775C>T | XP_011520794.1:p.Ser925= | |
| XM_011522493.2:c.2772C>T | XP_011520795.1:p.Ser924= | |
| XM_011522494.2:c.2703C>T | XP_011520796.1:p.Ser901= | |
| XM_011522495.2:c.2628C>T | XP_011520797.1:p.Ser876= | |
| XM_011522496.2:c.2625C>T | XP_011520798.1:p.Ser875= | |
| XM_024450280.1:c.3015C>T | XP_024306048.1:p.Ser1005= | |
| XM_024450281.1:c.2868C>T | XP_024306049.1:p.Ser956= | |
| XR_001751904.1:n.3134C>T | ||
| XR_932841.3:n.3086C>T | ||
| XR_932842.2:n.3086C>T | ||
| XR_932846.3:n.3134C>T | ||
| XR_932847.3:n.3134C>T | ||
| NM_001286403.2:c.1020C>T | NP_001273332.1:p.Ser340= | |
| NR_104444.2:n.1136-1045C>T | ||
| NM_000246.4:c.2772C>T MANE Select | NP_000237.2:p.Ser924= | |
| NM_001379330.1:c.2628C>T | NP_001366259.1:p.Ser876= | |
| NM_001379331.1:c.2625C>T | NP_001366260.1:p.Ser875= | |
| NM_001379332.1:c.2775C>T | NP_001366261.1:p.Ser925= | |
| NM_001379333.1:c.2772C>T | NP_001366262.1:p.Ser924= | |
| NM_001379334.1:c.2703C>T | NP_001366263.1:p.Ser901= |