Linked Data
dbSNP Id:
rs1029564
gnomAD v2:
7-84739855-T-G
gnomAD v3:
7-85110539-T-G
gnomAD v4:
7-85110539-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.85110539T>G , CM000669.2:g.85110539T>G | GRCh38 |
| NC_000007.13:g.84739855T>G , CM000669.1:g.84739855T>G | GRCh37 |
| NC_000007.12:g.84577791T>G | NCBI36 |
| NG_051329.1:g.81317A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000284136.11:c.151+11202A>C MANE Select | ENSP00000284136.6:n.151+11202A>C | |
| ENST00000284136.10:c.151+11202A>C | ENSP00000284136.6:n.151+11202A>C | |
| ENST00000444867.1:c.151+11202A>C | ENSP00000401366.1:n.151+11202A>C | |
| NM_152754.2:c.151+11202A>C | NP_689967.2:n.151+11202A>C | |
| XM_011515960.1:c.151+11202A>C | XP_011514262.1:n.151+11202A>C | |
| XM_017011873.1:c.151+11202A>C | XP_016867362.1:n.151+11202A>C | |
| NM_001384900.1:c.151+11202A>C MANE Select | NP_001371829.1:n.151+11202A>C | |
| NM_001384901.1:c.151+11202A>C | NP_001371830.1:n.151+11202A>C | |
| NM_001384902.1:c.151+11202A>C | NP_001371831.1:n.151+11202A>C | |
| NM_001384903.1:c.151+11202A>C | NP_001371832.1:n.151+11202A>C | |
| NM_152754.3:c.151+11202A>C | NP_689967.2:n.151+11202A>C |