Linked Data
dbSNP Id:
rs12932187
gnomAD v2:
16-10971880-C-G
gnomAD v3:
16-10878023-C-G
gnomAD v4:
16-10878023-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.10878023C>G , CM000678.2:g.10878023C>G | GRCh38 |
| NC_000016.9:g.10971880C>G , CM000678.1:g.10971880C>G | GRCh37 |
| NC_000016.8:g.10879381C>G | NCBI36 |
| NG_009628.1:g.5826C>G , LRG_49:g.5826C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695878.1:n.157+641C>G | ||
| ENST00000324288.14:c.52+641C>G MANE Select | ENSP00000316328.8:n.52+641C>G | |
| ENST00000636238.1:c.-21+11704C>G | ENSP00000490205.1:n.-21+11704C>G | |
| ENST00000637439.1:c.283+11451C>G | ENSP00000489907.1:n.283+11451C>G | |
| ENST00000324288.12:c.52+641C>G | ENSP00000316328.8:n.52+641C>G | |
| ENST00000381835.9:c.52+641C>G | ENSP00000371257.5:n.52+641C>G | |
| ENST00000537380.1:n.52+641C>G | ||
| ENST00000570546.5:n.173+641C>G | ||
| ENST00000571186.5:c.52+641C>G | ENSP00000459829.1:n.52+641C>G | |
| ENST00000573309.5:n.167+641C>G | ||
| ENST00000611587.4:c.52+641C>G | ENSP00000483487.1:n.52+641C>G | |
| ENST00000618207.4:c.52+641C>G | ENSP00000484761.1:n.52+641C>G | |
| ENST00000618327.4:c.52+641C>G | ENSP00000485010.1:n.52+641C>G | |
| NM_000246.3:c.52+641C>G , LRG_49t1:c.52+641C>G | NP_000237.2:n.52+641C>G | |
| NM_001286402.1:c.52+641C>G | NP_001273331.1:n.52+641C>G | |
| NM_001286403.1:c.52+641C>G | NP_001273332.1:n.52+641C>G | |
| NR_104444.1:n.185+641C>G | ||
| XM_006720880.2:c.346+11451C>G | XP_006720943.2:n.346+11451C>G | |
| XM_011522484.1:c.346+11451C>G | XP_011520786.1:n.346+11451C>G | |
| XM_011522485.1:c.346+11451C>G | XP_011520787.1:n.346+11451C>G | |
| XM_011522486.1:c.346+11451C>G | XP_011520788.1:n.346+11451C>G | |
| XM_011522487.1:c.247+11451C>G | XP_011520789.1:n.247+11451C>G | |
| XM_011522489.1:c.247+11451C>G | XP_011520791.1:n.247+11451C>G | |
| XM_011522491.1:c.346+11451C>G | XP_011520793.1:n.346+11451C>G | |
| XM_011522492.1:c.52+641C>G | XP_011520794.1:n.52+641C>G | |
| XM_011522493.1:c.52+641C>G | XP_011520795.1:n.52+641C>G | |
| XM_011522494.1:c.-21+11704C>G | XP_011520796.1:n.-21+11704C>G | |
| XM_011522495.1:c.52+641C>G | XP_011520797.1:n.52+641C>G | |
| XM_011522496.1:c.52+641C>G | XP_011520798.1:n.52+641C>G | |
| XR_932841.1:n.361+11451C>G | ||
| XR_932842.1:n.361+11451C>G | ||
| XR_932843.1:n.361+11451C>G | ||
| XR_932846.1:n.361+11451C>G | ||
| XR_932847.1:n.361+11451C>G | ||
| XR_932848.1:n.202+641C>G | ||
| XR_933067.1:n.1162+10292G>C | ||
| XR_933068.1:n.1162+10292G>C | ||
| XM_006720880.3:c.346+11451C>G | XP_006720943.2:n.346+11451C>G | |
| XM_011522484.3:c.346+11451C>G | XP_011520786.1:n.346+11451C>G | |
| XM_011522485.2:c.346+11451C>G | XP_011520787.1:n.346+11451C>G | |
| XM_011522486.2:c.346+11451C>G | XP_011520788.1:n.346+11451C>G | |
| XM_011522487.2:c.247+11451C>G | XP_011520789.1:n.247+11451C>G | |
| XM_011522488.2:c.-923C>G | XP_011520790.1:n.-923C>G | |
| XM_011522489.2:c.247+11451C>G | XP_011520791.1:n.247+11451C>G | |
| XM_011522490.2:c.-923C>G | XP_011520792.1:n.-923C>G | |
| XM_011522491.2:c.346+11451C>G | XP_011520793.1:n.346+11451C>G | |
| XM_011522492.2:c.52+641C>G | XP_011520794.1:n.52+641C>G | |
| XM_011522493.2:c.52+641C>G | XP_011520795.1:n.52+641C>G | |
| XM_011522494.2:c.-21+11704C>G | XP_011520796.1:n.-21+11704C>G | |
| XM_011522495.2:c.52+641C>G | XP_011520797.1:n.52+641C>G | |
| XM_011522496.2:c.52+641C>G | XP_011520798.1:n.52+641C>G | |
| XM_024450280.1:c.52+641C>G | XP_024306048.1:n.52+641C>G | |
| XM_024450281.1:c.52+641C>G | XP_024306049.1:n.52+641C>G | |
| XR_001751904.1:n.365+11451C>G | ||
| XR_002957860.1:n.1246+10292G>C | ||
| XR_002957861.1:n.1246+10292G>C | ||
| XR_002957863.1:n.1442+4996G>C | ||
| XR_932841.3:n.363+11451C>G | ||
| XR_932842.2:n.363+11451C>G | ||
| XR_932846.3:n.365+11451C>G | ||
| XR_932847.3:n.365+11451C>G | ||
| NM_001286403.2:c.52+641C>G | NP_001273332.1:n.52+641C>G | |
| NR_104444.2:n.181+641C>G | ||
| NM_000246.4:c.52+641C>G MANE Select | NP_000237.2:n.52+641C>G | |
| NM_001379330.1:c.52+641C>G | NP_001366259.1:n.52+641C>G | |
| NM_001379331.1:c.52+641C>G | NP_001366260.1:n.52+641C>G | |
| NM_001379332.1:c.52+641C>G | NP_001366261.1:n.52+641C>G | |
| NM_001379333.1:c.52+641C>G | NP_001366262.1:n.52+641C>G |