Linked Data
dbSNP Id:
rs1234222675
gnomAD v2:
7-87927383-G-C
gnomAD v3:
7-88298068-G-C
gnomAD v4:
7-88298068-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.88298068G>C , CM000669.2:g.88298068G>C | GRCh38 |
| NC_000007.13:g.87927383G>C , CM000669.1:g.87927383G>C | GRCh37 |
| NC_000007.12:g.87765319G>C | NCBI36 |
| NG_028313.1:g.13846C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380079.9:c.-3+8724C>G MANE Select | ENSP00000369419.4:n.-3+8724C>G | |
| ENST00000301959.9:c.-3+8724C>G | ENSP00000305545.5:n.-3+8724C>G | |
| ENST00000380079.8:c.-3+8724C>G | ENSP00000369419.4:n.-3+8724C>G | |
| ENST00000414498.1:c.-101-7054C>G | ENSP00000394399.1:n.-101-7054C>G | |
| NM_001205315.1:c.-101-7054C>G | NP_001192244.1:n.-101-7054C>G | |
| NM_001205316.1:c.-3+8724C>G | NP_001192245.1:n.-3+8724C>G | |
| NM_024636.3:c.-3+8724C>G | NP_078912.2:n.-3+8724C>G | |
| NM_001205315.2:c.-101-7054C>G | NP_001192244.1:n.-101-7054C>G | |
| NM_001205316.2:c.-3+8724C>G | NP_001192245.1:n.-3+8724C>G | |
| NM_024636.4:c.-3+8724C>G MANE Select | NP_078912.2:n.-3+8724C>G |