Linked Data
dbSNP Id:
rs9790517
gnomAD v2:
4-106084778-C-T
gnomAD v3:
4-105163621-C-T
gnomAD v4:
4-105163621-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.105163621C>T , CM000666.2:g.105163621C>T | GRCh38 |
| NC_000004.11:g.106084778C>T , CM000666.1:g.106084778C>T | GRCh37 |
| NC_000004.10:g.106304227C>T | NCBI36 |
| NG_028191.1:g.22747C>T , LRG_626:g.22747C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380013.9:c.-193+16642C>T MANE Select | ENSP00000369351.4:n.-193+16642C>T | |
| ENST00000265149.9:c.-193+16642C>T | ENSP00000265149.5:n.-193+16642C>T | |
| ENST00000305737.6:c.-193+17535C>T | ENSP00000306705.2:n.-193+17535C>T | |
| ENST00000380013.8:c.-193+16642C>T | ENSP00000369351.4:n.-193+16642C>T | |
| ENST00000394764.2:c.-47+16642C>T | ENSP00000378245.2:n.-47+16642C>T | |
| ENST00000413648.2:c.-47+16642C>T | ENSP00000391448.2:n.-47+16642C>T | |
| ENST00000504042.5:n.102+16642C>T | ||
| ENST00000505801.1:n.47+16642C>T | ||
| ENST00000513237.5:c.-111+16642C>T | ENSP00000425443.1:n.-111+16642C>T | |
| ENST00000514870.1:c.-193+15822C>T | ENSP00000426885.1:n.-193+15822C>T | |
| ENST00000540549.5:c.-174+16642C>T | ENSP00000442788.1:n.-174+16642C>T | |
| NM_001127208.2:c.-193+16642C>T , LRG_626t1:c.-193+16642C>T | NP_001120680.1:n.-193+16642C>T | |
| NM_017628.4:c.-193+17535C>T , LRG_626t2:c.-193+17535C>T | NP_060098.3:n.-193+17535C>T | |
| XM_005263082.1:c.-47+16642C>T | XP_005263139.1:n.-47+16642C>T | |
| XM_006714242.2:c.-193+16642C>T | XP_006714305.1:n.-193+16642C>T | |
| XM_011532043.1:c.-193+16642C>T | XP_011530345.1:n.-193+16642C>T | |
| XR_244633.2:n.104+16642C>T | ||
| XR_244634.2:n.104+16642C>T | ||
| XR_427546.2:n.104+16642C>T | ||
| XR_938746.1:n.104+16642C>T | ||
| XR_938747.1:n.104+16642C>T | ||
| XM_005263082.3:c.-47+16642C>T | XP_005263139.1:n.-47+16642C>T | |
| XM_006714242.3:c.-193+16642C>T | XP_006714305.1:n.-193+16642C>T | |
| XM_017008319.1:c.-193+16642C>T | XP_016863808.1:n.-193+16642C>T | |
| XM_024454102.1:c.-305-8194C>T | XP_024309870.1:n.-305-8194C>T | |
| XM_024454103.1:c.-193+17535C>T | XP_024309871.1:n.-193+17535C>T | |
| XR_001741246.1:n.139+16642C>T | ||
| XR_244633.3:n.139+16642C>T | ||
| XR_427546.4:n.139+16642C>T | ||
| XR_938746.2:n.139+16642C>T | ||
| XR_938747.3:n.139+16642C>T | ||
| NM_001127208.3:c.-193+16642C>T MANE Select | NP_001120680.1:n.-193+16642C>T |