Linked Data
dbSNP Id:
rs995416040
gnomAD v2:
2-47604396-G-C
gnomAD v3:
2-47377257-G-C
gnomAD v4:
2-47377257-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47377257G>C , CM000664.2:g.47377257G>C | GRCh38 |
| NC_000002.11:g.47604396G>C , CM000664.1:g.47604396G>C | GRCh37 |
| NC_000002.10:g.47457900G>C | NCBI36 |
| NG_012352.2:g.37095G>C , LRG_215:g.37095G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263735.9:c.555+180G>C MANE Select | ENSP00000263735.4:n.555+180G>C | |
| ENST00000263735.8:c.555+180G>C | ENSP00000263735.4:n.555+180G>C | |
| ENST00000405271.5:c.639+180G>C | ENSP00000385476.1:n.639+180G>C | |
| ENST00000456133.5:c.639+180G>C | ENSP00000410675.1:n.639+180G>C | |
| ENST00000490733.1:n.404+180G>C | ||
| NM_002354.2:c.555+180G>C , LRG_215t1:c.555+180G>C | NP_002345.2:n.555+180G>C | |
| NM_002354.3:c.555+180G>C MANE Select | NP_002345.2:n.555+180G>C |