Linked Data
dbSNP Id:
rs1215221601
gnomAD v2:
12-102224498-G-A
gnomAD v3:
12-101830720-G-A
gnomAD v4:
12-101830720-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101830720G>A , CM000674.2:g.101830720G>A | GRCh38 |
| NC_000012.11:g.102224498G>A , CM000674.1:g.102224498G>A | GRCh37 |
| NC_000012.10:g.100748629G>A | NCBI36 |
| NG_021243.1:g.5148C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.-45C>T MANE Select | ENSP00000299314.7:n.-45C>T | |
| ENST00000299314.11:c.-45C>T | ENSP00000299314.7:n.-45C>T | |
| ENST00000392919.4:c.-45C>T | ENSP00000376651.4:n.-45C>T | |
| ENST00000549940.5:c.-45C>T | ENSP00000449150.1:n.-45C>T | |
| NM_024312.4:c.-45C>T | NP_077288.2:n.-45C>T | |
| XM_006719593.2:c.-45C>T | XP_006719656.1:n.-45C>T | |
| XM_006719593.3:c.-45C>T | XP_006719656.1:n.-45C>T | |
| XM_017019961.1:c.-194C>T | XP_016875450.1:n.-194C>T | |
| XM_017019962.2:c.-1395C>T | XP_016875451.1:n.-1395C>T | |
| NM_024312.5:c.-45C>T MANE Select | NP_077288.2:n.-45C>T |