Linked Data
dbSNP Id:
rs7676614
gnomAD v2:
4-144616366-A-G
gnomAD v3:
4-143695213-A-G
gnomAD v4:
4-143695213-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.143695213A>G , CM000666.2:g.143695213A>G | GRCh38 |
| NC_000004.11:g.144616366A>G , CM000666.1:g.144616366A>G | GRCh37 |
| NC_000004.10:g.144835816A>G | NCBI36 |
| NG_052820.1:g.10463T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000329798.5:c.5185+278T>C MANE Select | ENSP00000332886.5:n.5185+278T>C | |
| NM_001168235.1:c.5185+278T>C | NP_001161707.1:n.5185+278T>C | |
| NM_001168235.2:c.5185+278T>C MANE Select | NP_001161707.1:n.5185+278T>C |