Linked Data
dbSNP Id:
rs3027188
gnomAD v2:
17-8048985-G-C
gnomAD v3:
17-8145667-G-C
gnomAD v4:
17-8145667-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8145667G>C , CM000679.2:g.8145667G>C | GRCh38 |
| NC_000017.10:g.8048985G>C , CM000679.1:g.8048985G>C | GRCh37 |
| NC_000017.9:g.7989710G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000317276.9:c.2218+291C>G MANE Select | ENSP00000314420.4:n.2218+291C>G | |
| ENST00000317276.8:c.2218+291C>G | ENSP00000314420.4:n.2218+291C>G | |
| ENST00000354903.9:c.2170+291C>G | ENSP00000346979.5:n.2170+291C>G | |
| ENST00000578089.1:n.297+291C>G | ||
| ENST00000581082.5:c.2158+291C>G | ENSP00000462064.1:n.2158+291C>G | |
| ENST00000581395.5:c.*214-674C>G | ENSP00000464696.1:n.*214-674C>G | |
| ENST00000582719.5:c.2218+291C>G | ENSP00000463054.1:n.2218+291C>G | |
| ENST00000583559.1:c.67+291C>G | ENSP00000463369.1:n.67+291C>G | |
| NM_002616.2:c.2218+291C>G | NP_002607.2:n.2218+291C>G | |
| XM_005256689.1:c.2218+291C>G | XP_005256746.1:n.2218+291C>G | |
| XM_005256690.1:c.2039-674C>G | XP_005256747.1:n.2039-674C>G | |
| XM_005256689.2:c.2218+291C>G | XP_005256746.1:n.2218+291C>G | |
| XM_024450803.1:c.2039-674C>G | XP_024306571.1:n.2039-674C>G | |
| NM_002616.3:c.2218+291C>G MANE Select | NP_002607.2:n.2218+291C>G |