Linked Data
dbSNP Id:
rs1076540
gnomAD v2:
22-18439958-C-T
gnomAD v3:
22-17957192-C-T
gnomAD v4:
22-17957192-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.17957192C>T , CM000684.2:g.17957192C>T | GRCh38 |
| NC_000022.10:g.18439958C>T , CM000684.1:g.18439958C>T | GRCh37 |
| NC_000022.9:g.16819958C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000441493.7:c.-74-50306G>A MANE Select | ENSP00000416015.2:n.-74-50306G>A | |
| ENST00000672019.1:c.-74-50306G>A | ENSP00000500702.1:n.-74-50306G>A | |
| ENST00000424046.1:c.-75+43897G>A | ENSP00000406193.1:n.-75+43897G>A | |
| ENST00000441493.6:c.-74-50306G>A | ENSP00000416015.2:n.-74-50306G>A | |
| ENST00000495076.5:c.-75+44201G>A | ENSP00000434678.1:n.-75+44201G>A | |
| NM_015241.2:c.-74-50306G>A | NP_056056.2:n.-74-50306G>A | |
| XM_005261262.2:c.-75+44201G>A | XP_005261319.1:n.-75+44201G>A | |
| XM_006724081.2:c.-75+44201G>A | XP_006724144.1:n.-75+44201G>A | |
| XM_006724086.2:c.-75+44201G>A | XP_006724149.1:n.-75+44201G>A | |
| XM_011546135.1:c.-74-50306G>A | XP_011544437.1:n.-74-50306G>A | |
| XM_011546137.1:c.-75+44201G>A | XP_011544439.1:n.-75+44201G>A | |
| XM_011546138.1:c.-75+44201G>A | XP_011544440.1:n.-75+44201G>A | |
| XM_011546139.1:c.-75+44201G>A | XP_011544441.1:n.-75+44201G>A | |
| XM_011546140.1:c.-75+44201G>A | XP_011544442.1:n.-75+44201G>A | |
| XM_011546141.1:c.-75+44201G>A | XP_011544443.1:n.-75+44201G>A | |
| XM_011546142.1:c.-75+44201G>A | XP_011544444.1:n.-75+44201G>A | |
| XM_011546143.1:c.-75+44201G>A | XP_011544445.1:n.-75+44201G>A | |
| XM_011546144.1:c.-75+44201G>A | XP_011544446.1:n.-75+44201G>A | |
| XM_011546145.1:c.-75+44201G>A | XP_011544447.1:n.-75+44201G>A | |
| XM_011546146.1:c.-75+44201G>A | XP_011544448.1:n.-75+44201G>A | |
| XM_011546147.1:c.-75+44201G>A | XP_011544449.1:n.-75+44201G>A | |
| XM_011546148.1:c.-75+44201G>A | XP_011544450.1:n.-75+44201G>A | |
| XR_951208.1:n.89+44201G>A | ||
| XR_951209.1:n.89+44201G>A | ||
| XM_005261262.3:c.-75+44201G>A | XP_005261319.1:n.-75+44201G>A | |
| XM_011546137.2:c.-75+44201G>A | XP_011544439.1:n.-75+44201G>A | |
| XM_011546139.3:c.-75+44201G>A | XP_011544441.1:n.-75+44201G>A | |
| XM_011546142.2:c.-75+44201G>A | XP_011544444.1:n.-75+44201G>A | |
| XM_011546146.3:c.-75+44201G>A | XP_011544448.1:n.-75+44201G>A | |
| XM_017028865.2:c.-75+28134G>A | XP_016884354.1:n.-75+28134G>A | |
| XM_017028868.2:c.-74-50306G>A | XP_016884357.1:n.-74-50306G>A | |
| XM_017028872.2:c.-75+44201G>A | XP_016884361.1:n.-75+44201G>A | |
| XM_017028873.2:c.-75+44201G>A | XP_016884362.1:n.-75+44201G>A | |
| XM_017028874.2:c.-75+44201G>A | XP_016884363.1:n.-75+44201G>A | |
| XM_017028875.2:c.-75+44201G>A | XP_016884364.1:n.-75+44201G>A | |
| XM_017028876.2:c.-75+44201G>A | XP_016884365.1:n.-75+44201G>A | |
| XM_017028877.2:c.-75+44201G>A | XP_016884366.1:n.-75+44201G>A | |
| XM_017028878.2:c.-75+44201G>A | XP_016884367.1:n.-75+44201G>A | |
| XM_017028879.2:c.-75+44201G>A | XP_016884368.1:n.-75+44201G>A | |
| XM_017028881.2:c.-74-50306G>A | XP_016884370.1:n.-74-50306G>A | |
| XM_017028882.2:c.-75+44201G>A | XP_016884371.1:n.-75+44201G>A | |
| XM_017028887.2:c.-75+44201G>A | XP_016884376.1:n.-75+44201G>A | |
| XR_001755266.1:n.109+44201G>A | ||
| XR_951208.2:n.109+44201G>A | ||
| XR_951209.2:n.109+44201G>A | ||
| NM_015241.3:c.-74-50306G>A MANE Select | NP_056056.2:n.-74-50306G>A |