Linked Data
dbSNP Id:
rs1482384626
gnomAD v2:
7-120305023-T-C
gnomAD v3:
7-120664969-T-C
gnomAD v4:
7-120664969-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.120664969T>C , CM000669.2:g.120664969T>C | GRCh38 |
| NC_000007.13:g.120305023T>C , CM000669.1:g.120305023T>C | GRCh37 |
| NC_000007.12:g.120092259T>C | NCBI36 |
| NG_034230.1:g.396302T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331113.9:c.1116-67934T>C MANE Select | ENSP00000333496.4:n.1116-67934T>C | |
| ENST00000331113.8:c.1116-67934T>C | ENSP00000333496.4:n.1116-67934T>C | |
| NM_012281.2:c.1116-67934T>C | NP_036413.1:n.1116-67934T>C | |
| NM_012281.3:c.1116-67934T>C MANE Select | NP_036413.1:n.1116-67934T>C |