Linked Data
dbSNP Id:
rs1182010707
gnomAD v2:
21-39786932-C-T
gnomAD v3:
21-38415010-C-T
gnomAD v4:
21-38415010-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.38415010C>T , CM000683.2:g.38415010C>T | GRCh38 |
| NC_000021.8:g.39786932C>T , CM000683.1:g.39786932C>T | GRCh37 |
| NC_000021.7:g.38708802C>T | NCBI36 |
| NG_029732.1:g.251773G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000288319.12:c.388+8400G>A MANE Select | ENSP00000288319.7:n.388+8400G>A | |
| ENST00000288319.11:c.388+8400G>A | ENSP00000288319.7:n.388+8400G>A | |
| ENST00000398897.5:c.112+8400G>A | ENSP00000381871.1:n.112+8400G>A | |
| ENST00000398905.5:c.388+8400G>A | ENSP00000381877.1:n.388+8400G>A | |
| ENST00000398907.5:c.388+8400G>A | ENSP00000381879.1:n.388+8400G>A | |
| ENST00000398910.5:c.409+8400G>A | ENSP00000381881.1:n.409+8400G>A | |
| ENST00000398911.5:c.409+8400G>A | ENSP00000381882.1:n.409+8400G>A | |
| ENST00000398919.6:c.409+8400G>A | ENSP00000381891.2:n.409+8400G>A | |
| ENST00000417133.6:c.409+8400G>A | ENSP00000414150.2:n.409+8400G>A | |
| ENST00000429727.6:c.292+8400G>A | ENSP00000415659.3:n.292+8400G>A | |
| ENST00000442448.5:c.409+8400G>A | ENSP00000394694.1:n.409+8400G>A | |
| ENST00000453032.6:c.112+8400G>A | ENSP00000396268.2:n.112+8400G>A | |
| ENST00000468474.5:n.595+8400G>A | ||
| ENST00000473107.1:n.454+8400G>A | ||
| ENST00000481609.5:n.559+8400G>A | ||
| ENST00000492833.5:n.370+8400G>A | ||
| NM_001136154.1:c.409+8400G>A | NP_001129626.1:n.409+8400G>A | |
| NM_001136155.1:c.112+8400G>A | NP_001129627.1:n.112+8400G>A | |
| NM_001243428.1:c.409+8400G>A | NP_001230357.1:n.409+8400G>A | |
| NM_001243429.1:c.112+8400G>A | NP_001230358.1:n.112+8400G>A | |
| NM_001243432.2:c.409+8400G>A | NP_001230361.1:n.409+8400G>A | |
| NM_001291391.1:c.409+8400G>A | NP_001278320.1:n.409+8400G>A | |
| NM_004449.4:c.409+8400G>A | NP_004440.1:n.409+8400G>A | |
| NM_182918.3:c.388+8400G>A | NP_891548.1:n.388+8400G>A | |
| XM_011529486.1:c.409+8400G>A | XP_011527788.1:n.409+8400G>A | |
| XM_011529487.1:c.409+8400G>A | XP_011527789.1:n.409+8400G>A | |
| NM_001331025.1:c.388+8400G>A | NP_001317954.1:n.388+8400G>A | |
| NM_182918.4:c.388+8400G>A MANE Select | NP_891548.1:n.388+8400G>A | |
| NM_001331025.2:c.388+8400G>A | NP_001317954.1:n.388+8400G>A |