Linked Data
dbSNP Id:
rs876793
gnomAD v2:
1-237852083-T-C
gnomAD v3:
1-237688783-T-C
gnomAD v4:
1-237688783-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237688783T>C , CM000663.2:g.237688783T>C | GRCh38 |
| NC_000001.10:g.237852083T>C , CM000663.1:g.237852083T>C | GRCh37 |
| NC_000001.9:g.235918706T>C | NCBI36 |
| NG_008799.2:g.651382T>C | |
| NG_008799.3:g.651600T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000609119.2:c.*102+8206T>C | ENSP00000499659.2:n.*102+8206T>C | |
| ENST00000659194.3:c.9067+1279T>C | ENSP00000499653.3:n.9067+1279T>C | |
| ENST00000660292.2:c.9067+1279T>C | ENSP00000499787.2:n.9067+1279T>C | |
| ENST00000659194.2:c.1256+1279T>C | ||
| ENST00000366574.7:c.9067+1279T>C MANE Select | ENSP00000355533.2:n.9067+1279T>C | |
| ENST00000659194.1:c.1256+1279T>C | ||
| ENST00000360064.7:c.9019+1279T>C | ENSP00000353174.7:n.9019+1279T>C | |
| ENST00000366574.6:c.9067+1279T>C | ENSP00000355533.2:n.9067+1279T>C | |
| ENST00000609119.1:n.205+8206T>C | ||
| NM_001035.2:c.9067+1279T>C | NP_001026.2:n.9067+1279T>C | |
| XM_006711802.2:c.9097+1279T>C | XP_006711865.1:n.9097+1279T>C | |
| XM_006711803.2:c.9094+1279T>C | XP_006711866.1:n.9094+1279T>C | |
| XM_006711804.2:c.9097+1279T>C | XP_006711867.1:n.9097+1279T>C | |
| XM_006711805.2:c.9067+1279T>C | XP_006711868.1:n.9067+1279T>C | |
| XM_006711806.2:c.9097+1279T>C | XP_006711869.1:n.9097+1279T>C | |
| XM_006711807.2:c.9097+1279T>C | XP_006711870.1:n.9097+1279T>C | |
| XM_006711808.2:c.8861-10182T>C | XP_006711871.1:n.8861-10182T>C | |
| XM_006711810.2:c.9064+1279T>C | XP_006711873.1:n.9064+1279T>C | |
| XR_949152.1:n.9328+8206T>C | ||
| XM_006711802.3:c.9097+1279T>C | XP_006711865.1:n.9097+1279T>C | |
| XM_006711803.3:c.9094+1279T>C | XP_006711866.1:n.9094+1279T>C | |
| XM_006711804.3:c.9097+1279T>C | XP_006711867.1:n.9097+1279T>C | |
| XM_006711805.3:c.9067+1279T>C | XP_006711868.1:n.9067+1279T>C | |
| XM_006711806.3:c.9097+1279T>C | XP_006711869.1:n.9097+1279T>C | |
| XM_006711807.3:c.9097+1279T>C | XP_006711870.1:n.9097+1279T>C | |
| XM_006711808.3:c.8861-10182T>C | XP_006711871.1:n.8861-10182T>C | |
| XM_006711810.3:c.9064+1279T>C | XP_006711873.1:n.9064+1279T>C | |
| XM_017002028.1:c.9076+1279T>C | XP_016857517.1:n.9076+1279T>C | |
| XR_949152.2:n.9361+8206T>C | ||
| NM_001035.3:c.9067+1279T>C MANE Select | NP_001026.2:n.9067+1279T>C |