Linked Data
dbSNP Id:
rs16851009
gnomAD v2:
2-166630707-C-T
gnomAD v3:
2-165774197-C-T
gnomAD v4:
2-165774197-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165774197C>T , CM000664.2:g.165774197C>T | GRCh38 |
| NC_000002.11:g.166630707C>T , CM000664.1:g.166630707C>T | GRCh37 |
| NC_000002.10:g.166338953C>T | NCBI36 |
| NG_012069.1:g.25097G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392701.8:c.-108-3389G>A MANE Select | ENSP00000376465.3:n.-108-3389G>A | |
| ENST00000392701.7:c.-108-3389G>A | ENSP00000376465.3:n.-108-3389G>A | |
| ENST00000412248.5:c.-227-2814G>A | ENSP00000412643.1:n.-227-2814G>A | |
| ENST00000414977.5:c.-227-2814G>A | ENSP00000413477.1:n.-227-2814G>A | |
| ENST00000422973.1:c.-227-2814G>A | ENSP00000413694.1:n.-227-2814G>A | |
| ENST00000431484.1:c.-108-3389G>A | ENSP00000397112.1:n.-108-3389G>A | |
| NM_004482.3:c.-108-3389G>A | NP_004473.2:n.-108-3389G>A | |
| XM_006712402.2:c.-108-3389G>A | XP_006712465.1:n.-108-3389G>A | |
| XM_011510929.1:c.-108-3389G>A | XP_011509231.1:n.-108-3389G>A | |
| XM_017003770.1:c.-108-3389G>A | XP_016859259.1:n.-108-3389G>A | |
| XR_002959253.1:n.234-3389G>A | ||
| NM_004482.4:c.-108-3389G>A MANE Select | NP_004473.2:n.-108-3389G>A |