Linked Data
dbSNP Id:
rs77372450
gnomAD v2:
5-156970144-A-C
gnomAD v3:
5-157543136-A-C
gnomAD v4:
5-157543136-A-C
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157543136A>C , CM000667.2:g.157543136A>C | GRCh38 |
| NC_000005.9:g.156970144A>C , CM000667.1:g.156970144A>C | GRCh37 |
| NC_000005.8:g.156902722A>C | NCBI36 |
| NG_046960.1:g.37688T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000257527.9:c.252-5145T>G MANE Select | ENSP00000257527.5:n.252-5145T>G | |
| ENST00000257527.8:c.252-5145T>G | ENSP00000257527.4:n.252-5145T>G | |
| ENST00000517905.1:c.252-5145T>G | ENSP00000428654.1:n.252-5145T>G | |
| ENST00000517951.5:c.252-5145T>G | ENSP00000428376.1:n.252-5145T>G | |
| NM_033274.4:c.252-5145T>G | NP_150377.1:n.252-5145T>G | |
| XM_005266003.2:c.252-5145T>G | XP_005266060.1:n.252-5145T>G | |
| NM_033274.5:c.252-5145T>G MANE Select | NP_150377.1:n.252-5145T>G |