Linked Data
dbSNP Id:
rs1408381691
gnomAD v4:
5-141626118-G-C
MyVariant Identifiers:
chr5:g.141005685G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.141626118G>C , CM000667.2:g.141626118G>C | GRCh38 |
| NC_000005.9:g.141005685G>C , CM000667.1:g.141005685G>C | GRCh37 |
| NC_000005.8:g.140985869G>C | NCBI36 |
| NG_029678.1:g.15739C>G | |
| NG_029678.2:g.15739C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305264.8:c.921-47C>G MANE Select | ENSP00000302967.3:n.921-47C>G | |
| ENST00000305264.7:c.921-47C>G | ENSP00000302967.3:n.921-47C>G | |
| ENST00000459727.5:n.233+76C>G | ||
| ENST00000467533.5:n.599+76C>G | ||
| ENST00000469550.6:n.994-47C>G | ||
| ENST00000475549.1:n.252-47C>G | ||
| ENST00000486618.1:n.368C>G | ||
| ENST00000491581.5:n.135-47C>G | ||
| ENST00000492407.1:n.767+76C>G | ||
| NM_003883.3:c.921-47C>G | NP_003874.2:n.921-47C>G | |
| XM_011537697.1:c.360-47C>G | XP_011535999.1:n.360-47C>G | |
| XR_944336.1:n.1006-47C>G | ||
| NM_001355039.1:c.921-47C>G | NP_001341968.1:n.921-47C>G | |
| NM_001355040.1:c.462-47C>G | NP_001341969.1:n.462-47C>G | |
| NM_001355041.1:c.360-47C>G | NP_001341970.1:n.360-47C>G | |
| NR_149164.1:n.987-47C>G | ||
| NR_149165.1:n.869-47C>G | ||
| NR_149166.1:n.843+76C>G | ||
| NR_149167.1:n.1011+76C>G | ||
| NR_149168.1:n.1012-47C>G | ||
| NR_149169.1:n.1012-47C>G | ||
| NM_003883.4:c.921-47C>G MANE Select | NP_003874.2:n.921-47C>G | |
| NM_001355039.2:c.921-47C>G | NP_001341968.1:n.921-47C>G | |
| NR_149167.2:n.1004+76C>G | ||
| NM_001355040.2:c.462-47C>G | NP_001341969.1:n.462-47C>G | |
| NM_001355041.2:c.360-47C>G | NP_001341970.1:n.360-47C>G | |
| NR_149164.2:n.980-47C>G | ||
| NR_149165.2:n.862-47C>G | ||
| NR_149166.2:n.836+76C>G | ||
| NR_149168.2:n.1005-47C>G | ||
| NR_149169.2:n.1005-47C>G |