Linked Data
dbSNP Id:
rs984519332
gnomAD v2:
17-16851921-C-G
gnomAD v3:
17-16948607-C-G
gnomAD v4:
17-16948607-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16948607C>G , CM000679.2:g.16948607C>G | GRCh38 |
| NC_000017.10:g.16851921C>G , CM000679.1:g.16851921C>G | GRCh37 |
| NC_000017.9:g.16792646C>G | NCBI36 |
| NG_007281.1:g.28482G>C , LRG_120:g.28482G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261652.7:c.445+131G>C MANE Select | ENSP00000261652.2:n.445+131G>C | |
| ENST00000261652.6:c.445+131G>C | ENSP00000261652.2:n.445+131G>C | |
| ENST00000579315.5:c.445+131G>C | ENSP00000464069.1:n.445+131G>C | |
| ENST00000581616.2:n.448+131G>C | ||
| ENST00000582931.5:n.349+131G>C | ||
| ENST00000583789.1:c.307+131G>C | ENSP00000462952.1:n.307+131G>C | |
| ENST00000584950.5:c.307+131G>C | ENSP00000463582.1:n.307+131G>C | |
| NM_012452.2:c.445+131G>C , LRG_120t1:c.445+131G>C | NP_036584.1:n.445+131G>C | |
| NM_012452.3:c.445+131G>C MANE Select | NP_036584.1:n.445+131G>C |