Linked Data
dbSNP Id:
rs1207776276
gnomAD v2:
2-233404608-G-T
gnomAD v3:
2-232539898-G-T
gnomAD v4:
2-232539898-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232539898G>T , CM000664.2:g.232539898G>T | GRCh38 |
| NC_000002.11:g.233404608G>T , CM000664.1:g.233404608G>T | GRCh37 |
| NC_000002.10:g.233112852G>T | NCBI36 |
| NG_012954.1:g.5172G>T | |
| NG_012954.2:g.5207G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651502.1:c.56-94G>T MANE Select | ENSP00000498757.1:n.56-94G>T | |
| ENST00000389492.3:c.56-94G>T | ENSP00000374143.3:n.56-94G>T | |
| ENST00000389494.7:c.56-94G>T | ENSP00000374145.3:n.56-94G>T | |
| ENST00000485094.1:n.77-94G>T | ||
| NM_005199.4:c.56-94G>T | NP_005190.4:n.56-94G>T | |
| NM_005199.5:c.56-94G>T MANE Select | NP_005190.4:n.56-94G>T |