Linked Data
dbSNP Id:
rs2664035
gnomAD v2:
4-48220839-G-A
gnomAD v3:
4-48218822-G-A
gnomAD v4:
4-48218822-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.48218822G>A , CM000666.2:g.48218822G>A | GRCh38 |
| NC_000004.11:g.48220839G>A , CM000666.1:g.48220839G>A | GRCh37 |
| NC_000004.10:g.47915596G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381501.8:c.138+9655C>T MANE Select | ENSP00000370912.3:n.138+9655C>T | |
| ENST00000381501.7:c.138+9655C>T | ENSP00000370912.3:n.138+9655C>T | |
| ENST00000505452.5:c.138+9655C>T | ENSP00000424567.1:n.138+9655C>T | |
| NM_003215.2:c.138+9655C>T | NP_003206.2:n.138+9655C>T | |
| XM_011513735.1:c.138+9655C>T | XP_011512037.1:n.138+9655C>T | |
| XM_011513736.1:c.138+9655C>T | XP_011512038.1:n.138+9655C>T | |
| XM_011513737.1:c.-109+9655C>T | XP_011512039.1:n.-109+9655C>T | |
| XM_011513738.1:c.-143+9655C>T | XP_011512040.1:n.-143+9655C>T | |
| XM_011513739.1:c.-51+9655C>T | XP_011512041.1:n.-51+9655C>T | |
| XM_011513740.1:c.138+9655C>T | XP_011512042.1:n.138+9655C>T | |
| XM_011513741.1:c.138+9655C>T | XP_011512043.1:n.138+9655C>T | |
| XR_925160.1:n.183+9655C>T | ||
| XR_925161.1:n.183+9655C>T | ||
| XM_011513737.2:c.-109+9655C>T | XP_011512039.1:n.-109+9655C>T | |
| XM_024454193.1:c.138+9655C>T | XP_024309961.1:n.138+9655C>T | |
| XR_001741318.1:n.183+9655C>T | ||
| XR_001741319.1:n.296+9655C>T | ||
| XR_925160.2:n.183+9655C>T | ||
| NM_003215.3:c.138+9655C>T MANE Select | NP_003206.2:n.138+9655C>T |