Linked Data
ClinVar Variation Id:
371127
dbSNP Id:
rs1057517028
gnomAD v2:
6-74345104-C-T
gnomAD v3:
6-73635381-C-T
gnomAD v4:
6-73635381-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73635381C>T , CM000668.2:g.73635381C>T | GRCh38 |
| NC_000006.11:g.74345104C>T , CM000668.1:g.74345104C>T | GRCh37 |
| NC_000006.10:g.74401825C>T | NCBI36 |
| NG_008272.1:g.23634G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355773.6:c.819+1G>A MANE Select | ENSP00000348019.5:n.819+1G>A | |
| ENST00000355773.5:c.819+1G>A | ENSP00000348019.5:n.819+1G>A | |
| ENST00000481996.1:n.586G>A | ||
| NM_012434.4:c.819+1G>A | NP_036566.1:n.819+1G>A | |
| XM_005248710.2:c.768+1G>A | XP_005248767.1:n.768+1G>A | |
| XM_005248711.1:c.621+1G>A | XP_005248768.1:n.621+1G>A | |
| XM_011535750.1:c.819+1G>A | XP_011534052.1:n.819+1G>A | |
| XM_011535751.1:c.819+1G>A | XP_011534053.1:n.819+1G>A | |
| NM_012434.5:c.819+1G>A MANE Select | NP_036566.1:n.819+1G>A | |
| NM_001382629.1:c.588+1G>A | NP_001369558.1:n.588+1G>A | |
| NM_001382630.1:c.819+1G>A | NP_001369559.1:n.819+1G>A | |
| NM_001382631.1:c.840+1G>A | NP_001369560.1:n.840+1G>A | |
| NM_001382632.1:c.732+1G>A | NP_001369561.1:n.732+1G>A | |
| NM_001382633.1:c.819+1G>A | NP_001369562.1:n.819+1G>A | |
| NM_001382634.1:c.819+1G>A | NP_001369563.1:n.819+1G>A | |
| NM_001382635.1:c.816+1G>A | NP_001369564.1:n.816+1G>A | |
| NM_001382636.1:c.501+1G>A | NP_001369565.1:n.501+1G>A |