Linked Data
dbSNP Id:
rs748862338
ExAC:
17:45360925 G / C
gnomAD v2:
17-45360925-G-C
gnomAD v4:
17-47283559-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47283559G>C , CM000679.2:g.47283559G>C | GRCh38 |
| NC_000017.10:g.45360925G>C , CM000679.1:g.45360925G>C | GRCh37 |
| NC_000017.9:g.42715924G>C | NCBI36 |
| NG_008332.2:g.34718G>C , LRG_481:g.34718G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.361+10G>C | ENSP00000513002.1:n.361+10G>C | |
| ENST00000559488.7:c.361+10G>C MANE Select | ENSP00000452786.2:n.361+10G>C | |
| ENST00000559488.5:c.361+10G>C | ENSP00000452786.1:n.361+10G>C | |
| ENST00000560629.1:c.326+10G>C | ||
| ENST00000571680.1:c.361+10G>C | ENSP00000461626.1:n.361+10G>C | |
| NM_000212.2:c.361+10G>C , LRG_481t1:c.361+10G>C | NP_000203.2:n.361+10G>C | |
| NM_000212.3:c.361+10G>C MANE Select | NP_000203.2:n.361+10G>C |