Linked Data
ClinVar Variation Id:
317722
ClinVar RCV Id:
RCV000334618
dbSNP Id:
rs559875711
ExAC:
16:11012285 G / T
gnomAD v2:
16-11012285-G-T
gnomAD v3:
16-10918428-G-T
gnomAD v4:
16-10918428-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.10918428G>T , CM000678.2:g.10918428G>T | GRCh38 |
| NC_000016.9:g.11012285G>T , CM000678.1:g.11012285G>T | GRCh37 |
| NC_000016.8:g.10919786G>T | NCBI36 |
| NG_009628.1:g.46231G>T , LRG_49:g.46231G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324288.14:c.3063-12G>T MANE Select | ENSP00000316328.8:n.3063-12G>T | |
| ENST00000324288.12:c.3063-12G>T | ENSP00000316328.8:n.3063-12G>T | |
| ENST00000381835.9:c.1311-12G>T | ENSP00000371257.5:n.1311-12G>T | |
| ENST00000570546.5:n.4063-12G>T | ||
| ENST00000618207.4:c.*191-12G>T | ENSP00000484761.1:n.*191-12G>T | |
| ENST00000618327.4:c.3066-12G>T | ENSP00000485010.1:n.3066-12G>T | |
| NM_000246.3:c.3063-12G>T , LRG_49t1:c.3063-12G>T | NP_000237.2:n.3063-12G>T | |
| NM_001286402.1:c.3066-12G>T | NP_001273331.1:n.3066-12G>T | |
| NM_001286403.1:c.1311-12G>T | NP_001273332.1:n.1311-12G>T | |
| NR_104444.1:n.1386-12G>T | ||
| XM_006720880.2:c.3360-12G>T | XP_006720943.2:n.3360-12G>T | |
| XM_011522484.1:c.3360-12G>T | XP_011520786.1:n.3360-12G>T | |
| XM_011522485.1:c.3360-12G>T | XP_011520787.1:n.3360-12G>T | |
| XM_011522486.1:c.3360-12G>T | XP_011520788.1:n.3360-12G>T | |
| XM_011522487.1:c.3114-12G>T | XP_011520789.1:n.3114-12G>T | |
| XM_011522488.1:c.3111-12G>T | XP_011520790.1:n.3111-12G>T | |
| XM_011522489.1:c.3111-12G>T | XP_011520791.1:n.3111-12G>T | |
| XM_011522490.1:c.3108-12G>T | XP_011520792.1:n.3108-12G>T | |
| XM_011522492.1:c.3066-12G>T | XP_011520794.1:n.3066-12G>T | |
| XM_011522493.1:c.3063-12G>T | XP_011520795.1:n.3063-12G>T | |
| XM_011522494.1:c.2994-12G>T | XP_011520796.1:n.2994-12G>T | |
| XM_011522495.1:c.2919-12G>T | XP_011520797.1:n.2919-12G>T | |
| XM_011522496.1:c.2916-12G>T | XP_011520798.1:n.2916-12G>T | |
| XR_932841.1:n.3375-12G>T | ||
| XR_932842.1:n.3375-12G>T | ||
| XR_932843.1:n.3375-12G>T | ||
| XR_932846.1:n.3421-12G>T | ||
| XR_932848.1:n.1461-12G>T | ||
| XM_006720880.3:c.3360-12G>T | XP_006720943.2:n.3360-12G>T | |
| XM_011522484.3:c.3360-12G>T | XP_011520786.1:n.3360-12G>T | |
| XM_011522485.2:c.3360-12G>T | XP_011520787.1:n.3360-12G>T | |
| XM_011522486.2:c.3360-12G>T | XP_011520788.1:n.3360-12G>T | |
| XM_011522487.2:c.3114-12G>T | XP_011520789.1:n.3114-12G>T | |
| XM_011522488.2:c.3111-12G>T | XP_011520790.1:n.3111-12G>T | |
| XM_011522489.2:c.3111-12G>T | XP_011520791.1:n.3111-12G>T | |
| XM_011522490.2:c.3108-12G>T | XP_011520792.1:n.3108-12G>T | |
| XM_011522492.2:c.3066-12G>T | XP_011520794.1:n.3066-12G>T | |
| XM_011522493.2:c.3063-12G>T | XP_011520795.1:n.3063-12G>T | |
| XM_011522494.2:c.2994-12G>T | XP_011520796.1:n.2994-12G>T | |
| XM_011522495.2:c.2919-12G>T | XP_011520797.1:n.2919-12G>T | |
| XM_011522496.2:c.2916-12G>T | XP_011520798.1:n.2916-12G>T | |
| XM_024450280.1:c.3306-12G>T | XP_024306048.1:n.3306-12G>T | |
| XM_024450281.1:c.3159-12G>T | XP_024306049.1:n.3159-12G>T | |
| XR_001751904.1:n.3425-12G>T | ||
| XR_932841.3:n.3377-12G>T | ||
| XR_932842.2:n.3377-12G>T | ||
| XR_932846.3:n.3425-12G>T | ||
| NM_001286403.2:c.1311-12G>T | NP_001273332.1:n.1311-12G>T | |
| NR_104444.2:n.1382-12G>T | ||
| NM_000246.4:c.3063-12G>T MANE Select | NP_000237.2:n.3063-12G>T | |
| NM_001379330.1:c.2919-12G>T | NP_001366259.1:n.2919-12G>T | |
| NM_001379331.1:c.2916-12G>T | NP_001366260.1:n.2916-12G>T | |
| NM_001379332.1:c.3066-12G>T | NP_001366261.1:n.3066-12G>T | |
| NM_001379333.1:c.3063-12G>T | NP_001366262.1:n.3063-12G>T | |
| NM_001379334.1:c.2994-12G>T | NP_001366263.1:n.2994-12G>T |