Linked Data
dbSNP Id:
rs16841722
gnomAD v2:
2-158278213-T-C
gnomAD v3:
2-157421701-T-C
gnomAD v4:
2-157421701-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.157421701T>C , CM000664.2:g.157421701T>C | GRCh38 |
| NC_000002.11:g.158278213T>C , CM000664.1:g.158278213T>C | GRCh37 |
| NC_000002.10:g.157986459T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264192.8:c.547-3112A>G MANE Select | ENSP00000264192.3:n.547-3112A>G | |
| ENST00000264192.7:c.547-3112A>G | ENSP00000264192.3:n.547-3112A>G | |
| ENST00000418920.5:c.229-3112A>G | ENSP00000394308.1:n.229-3112A>G | |
| ENST00000457793.6:c.*442-3112A>G | ENSP00000407205.2:n.*442-3112A>G | |
| NM_004288.4:c.547-3112A>G | NP_004279.3:n.547-3112A>G | |
| XM_017005386.2:c.229-3112A>G | XP_016860875.1:n.229-3112A>G | |
| NM_004288.5:c.547-3112A>G MANE Select | NP_004279.3:n.547-3112A>G |