Linked Data
ClinVar Variation Id:
542482
dbSNP Id:
rs558571598
ExAC:
6:75901970 C / T
gnomAD v2:
6-75901970-C-T
gnomAD v3:
6-75192254-C-T
gnomAD v4:
6-75192254-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75192254C>T , CM000668.2:g.75192254C>T | GRCh38 |
| NC_000006.11:g.75901970C>T , CM000668.1:g.75901970C>T | GRCh37 |
| NC_000006.10:g.75958690C>T | NCBI36 |
| NG_042181.1:g.18654G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322507.13:c.292G>A MANE Select | ENSP00000325146.8:p.Asp98Asn | |
| ENST00000322507.12:c.292G>A | ENSP00000325146.8:p.Asp98Asn | |
| ENST00000345356.10:c.73+10466G>A | ENSP00000305147.9:n.73+10466G>A | |
| ENST00000416123.6:c.292G>A | ENSP00000412864.2:p.Asp98Asn | |
| ENST00000483888.6:c.292G>A | ENSP00000421216.1:p.Asp98Asn | |
| ENST00000615798.4:c.-3276G>A | ENSP00000483232.1:n.-3276G>A | |
| NM_004370.5:c.292G>A | NP_004361.3:p.Asp98Asn | |
| NM_080645.2:c.73+10466G>A | NP_542376.2:n.73+10466G>A | |
| XM_011535434.1:c.292G>A | XP_011533736.1:p.Asp98Asn | |
| XM_011535435.1:c.292G>A | XP_011533737.1:p.Asp98Asn | |
| XM_011535436.1:c.73+10466G>A | XP_011533738.1:n.73+10466G>A | |
| XM_011535436.2:c.73+10466G>A | XP_011533738.1:n.73+10466G>A | |
| XM_017010252.2:c.256G>A | XP_016865741.1:p.Asp86Asn | |
| NM_004370.6:c.292G>A MANE Select | NP_004361.3:p.Asp98Asn | |
| NM_080645.3:c.73+10466G>A | NP_542376.2:n.73+10466G>A |