Linked Data
dbSNP Id:
rs11740562
gnomAD v2:
5-156942285-A-G
gnomAD v3:
5-157515277-A-G
gnomAD v4:
5-157515277-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157515277A>G , CM000667.2:g.157515277A>G | GRCh38 |
| NC_000005.9:g.156942285A>G , CM000667.1:g.156942285A>G | GRCh37 |
| NC_000005.8:g.156874863A>G | NCBI36 |
| NG_046960.1:g.65547T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000257527.9:c.667-1772T>C MANE Select | ENSP00000257527.5:n.667-1772T>C | |
| ENST00000257527.8:c.667-1772T>C | ENSP00000257527.4:n.667-1772T>C | |
| ENST00000517905.1:c.667-1772T>C | ENSP00000428654.1:n.667-1772T>C | |
| ENST00000517951.5:c.667-1772T>C | ENSP00000428376.1:n.667-1772T>C | |
| NM_033274.4:c.667-1772T>C | NP_150377.1:n.667-1772T>C | |
| XM_005266003.2:c.667-1772T>C | XP_005266060.1:n.667-1772T>C | |
| XM_011534680.1:c.-135-1772T>C | XP_011532982.1:n.-135-1772T>C | |
| XM_011534681.1:c.-145-1772T>C | XP_011532983.1:n.-145-1772T>C | |
| NM_033274.5:c.667-1772T>C MANE Select | NP_150377.1:n.667-1772T>C |