Linked Data
dbSNP Id:
rs1912124
gnomAD v2:
15-81498971-T-C
gnomAD v3:
15-81206630-T-C
gnomAD v4:
15-81206630-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.81206630T>C , CM000677.2:g.81206630T>C | GRCh38 |
| NC_000015.9:g.81498971T>C , CM000677.1:g.81498971T>C | GRCh37 |
| NC_000015.8:g.79286026T>C | NCBI36 |
| NG_029933.1:g.14753T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302987.10:c.41-18669T>C | ENSP00000302935.5:n.41-18669T>C | |
| ENST00000706926.1:c.-102+6768T>C | ENSP00000516648.1:n.-102+6768T>C | |
| ENST00000302987.9:c.41-18669T>C | ENSP00000302935.5:n.41-18669T>C | |
| ENST00000683961.1:c.-102+9478T>C MANE Select | ENSP00000508085.1:n.-102+9478T>C | |
| ENST00000360547.9:c.-102+18227T>C | ENSP00000456972.1:n.-102+18227T>C | |
| ENST00000394660.6:c.-102+9493T>C | ENSP00000378155.2:n.-102+9493T>C | |
| ENST00000559383.5:c.-102+9478T>C | ENSP00000453250.1:n.-102+9478T>C | |
| ENST00000560241.5:c.-101-18669T>C | ENSP00000452738.1:n.-101-18669T>C | |
| NM_001172128.1:c.-102+9493T>C | NP_001165599.1:n.-102+9493T>C | |
| XM_005254342.2:c.41-18669T>C | XP_005254399.1:n.41-18669T>C | |
| XM_011521520.1:c.-102+9478T>C | XP_011519822.1:n.-102+9478T>C | |
| NM_001352684.1:c.-2121+9478T>C | NP_001339613.1:n.-2121+9478T>C | |
| NM_001352685.1:c.-760+9478T>C | NP_001339614.1:n.-760+9478T>C | |
| NM_001352686.1:c.52+6768T>C | NP_001339615.1:n.52+6768T>C | |
| NM_172217.4:c.-102+9478T>C | NP_757366.2:n.-102+9478T>C | |
| NR_148035.1:n.275+9478T>C | ||
| NM_001172128.2:c.-102+9493T>C | NP_001165599.1:n.-102+9493T>C | |
| NM_001352684.2:c.-2121+9478T>C | NP_001339613.1:n.-2121+9478T>C | |
| NM_001352685.2:c.-760+9478T>C | NP_001339614.1:n.-760+9478T>C | |
| NM_172217.5:c.-102+9478T>C MANE Select | NP_757366.2:n.-102+9478T>C | |
| NR_148035.2:n.274+9478T>C | ||
| NM_001352686.2:c.52+6768T>C | NP_001339615.1:n.52+6768T>C |