Linked Data
dbSNP Id:
rs1455549198
gnomAD v2:
5-131892903-G-T
gnomAD v3:
5-132557211-G-T
gnomAD v4:
5-132557211-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132557211G>T , CM000667.2:g.132557211G>T | GRCh38 |
| NC_000005.9:g.131892903G>T , CM000667.1:g.131892903G>T | GRCh37 |
| NC_000005.8:g.131920802G>T | NCBI36 |
| NG_021151.1:g.5288G>T | |
| NG_021151.2:g.5235G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.-114G>T MANE Select | ENSP00000368100.4:n.-114G>T | |
| ENST00000638452.2:c.-168-2073G>T | ENSP00000492349.2:n.-168-2073G>T | |
| ENST00000638504.1:n.207-2073G>T | ||
| ENST00000638568.2:c.-169+738G>T | ENSP00000491158.2:n.-169+738G>T | |
| ENST00000639899.1:n.290-2073G>T | ||
| ENST00000640655.2:c.-168-2073G>T | ENSP00000491596.2:n.-168-2073G>T | |
| ENST00000651160.1:c.-114G>T | ENSP00000498829.1:n.-114G>T | |
| ENST00000651541.1:c.-169+202G>T | ENSP00000498795.1:n.-169+202G>T | |
| ENST00000651723.1:c.-114G>T | ENSP00000498237.1:n.-114G>T | |
| ENST00000652016.1:c.-114G>T | ENSP00000498267.1:n.-114G>T | |
| ENST00000652485.1:c.-114G>T | ENSP00000498973.1:n.-114G>T | |
| ENST00000378823.7:c.-114G>T | ENSP00000368100.4:n.-114G>T | |
| ENST00000416135.5:c.-169+738G>T | ENSP00000389515.1:n.-169+738G>T | |
| ENST00000533482.5:c.-114G>T | ENSP00000431225.1:n.-114G>T | |
| NM_005732.3:c.-114G>T | NP_005723.2:n.-114G>T | |
| NM_005732.4:c.-114G>T MANE Select | NP_005723.2:n.-114G>T |