Linked Data
dbSNP Id:
rs775550896
ExAC:
17:48265861 G / C
gnomAD v2:
17-48265861-G-C
gnomAD v3:
17-50188500-G-C
gnomAD v4:
17-50188500-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50188500G>C , CM000679.2:g.50188500G>C | GRCh38 |
| NC_000017.10:g.48265861G>C , CM000679.1:g.48265861G>C | GRCh37 |
| NC_000017.9:g.45620860G>C | NCBI36 |
| NG_007400.1:g.18140C>G , LRG_1:g.18140C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225964.10:c.3207+30C>G MANE Select | ENSP00000225964.6:n.3207+30C>G | |
| ENST00000225964.9:c.3207+30C>G | ENSP00000225964.5:n.3207+30C>G | |
| ENST00000486572.1:n.55C>G | ||
| ENST00000511732.1:n.181C>G | ||
| NM_000088.3:c.3207+30C>G , LRG_1t1:c.3207+30C>G | NP_000079.2:n.3207+30C>G | |
| XM_005257058.3:c.2937+30C>G | XP_005257115.2:n.2937+30C>G | |
| XM_005257059.3:c.2289+30C>G | XP_005257116.2:n.2289+30C>G | |
| XM_011524341.1:c.3009+30C>G | XP_011522643.1:n.3009+30C>G | |
| XM_005257058.4:c.2937+30C>G | XP_005257115.2:n.2937+30C>G | |
| XM_005257059.4:c.2289+30C>G | XP_005257116.2:n.2289+30C>G | |
| NM_000088.4:c.3207+30C>G MANE Select | NP_000079.2:n.3207+30C>G |