Linked Data
dbSNP Id:
rs374631740
ExAC:
7:100230802 G / C
gnomAD v2:
7-100230802-G-C
gnomAD v3:
7-100633179-G-C
gnomAD v4:
7-100633179-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100633179G>C , CM000669.2:g.100633179G>C | GRCh38 |
| NC_000007.13:g.100230802G>C , CM000669.1:g.100230802G>C | GRCh37 |
| NC_000007.12:g.100068738G>C | NCBI36 |
| NG_007989.1:g.13372C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223051.8:c.726+50C>G MANE Select | ENSP00000223051.3:n.726+50C>G | |
| ENST00000223051.7:c.726+50C>G | ENSP00000223051.3:n.726+50C>G | |
| ENST00000431692.5:c.726+50C>G | ENSP00000413905.1:n.726+50C>G | |
| ENST00000462107.1:c.726+50C>G | ENSP00000420525.1:n.726+50C>G | |
| ENST00000465294.5:n.731+50C>G | ||
| ENST00000473374.5:n.176+50C>G | ||
| ENST00000473571.1:n.180+50C>G | ||
| ENST00000475011.1:n.255+50C>G | ||
| ENST00000476304.5:n.347+50C>G | ||
| NM_001206855.1:c.213+50C>G | NP_001193784.1:n.213+50C>G | |
| NM_003227.3:c.726+50C>G | NP_003218.2:n.726+50C>G | |
| XM_005250553.3:c.726+50C>G | XP_005250610.1:n.726+50C>G | |
| XM_005250554.3:c.726+50C>G | XP_005250611.1:n.726+50C>G | |
| NM_001206855.2:c.213+50C>G | NP_001193784.1:n.213+50C>G | |
| XM_005250553.4:c.726+50C>G | XP_005250610.1:n.726+50C>G | |
| XM_017012573.1:c.726+50C>G | XP_016868062.1:n.726+50C>G | |
| NM_003227.4:c.726+50C>G MANE Select | NP_003218.2:n.726+50C>G | |
| NM_001206855.3:c.213+50C>G | NP_001193784.1:n.213+50C>G |