Linked Data
dbSNP Id:
rs988901242
gnomAD v2:
5-177036130-C-T
gnomAD v3:
5-177609129-C-T
gnomAD v4:
5-177609129-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177609129C>T , CM000667.2:g.177609129C>T | GRCh38 |
| NC_000005.9:g.177036130C>T , CM000667.1:g.177036130C>T | GRCh37 |
| NC_000005.8:g.176968736C>T | NCBI36 |
| NG_015977.1:g.14012C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000029410.10:c.828+115C>T MANE Select | ENSP00000029410.5:n.828+115C>T | |
| ENST00000029410.9:c.828+115C>T | ENSP00000029410.5:n.828+115C>T | |
| ENST00000505145.1:n.1926+115C>T | ||
| ENST00000505433.5:c.*334+115C>T | ENSP00000425591.1:n.*334+115C>T | |
| ENST00000515353.1:n.1650+115C>T | ||
| NM_007255.2:c.828+115C>T | NP_009186.1:n.828+115C>T | |
| XM_005265805.2:c.486+115C>T | XP_005265862.1:n.486+115C>T | |
| XM_006714816.2:c.348+115C>T | XP_006714879.1:n.348+115C>T | |
| XM_011534421.1:c.486+115C>T | XP_011532723.1:n.486+115C>T | |
| XM_006714816.4:c.348+115C>T | XP_006714879.1:n.348+115C>T | |
| XM_017008999.2:c.486+115C>T | XP_016864488.1:n.486+115C>T | |
| NM_007255.3:c.828+115C>T MANE Select | NP_009186.1:n.828+115C>T |