Linked Data
dbSNP Id:
rs751302925
ExAC:
7:150643977 G / A
gnomAD v2:
7-150643977-G-A
gnomAD v4:
7-150946889-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150946889G>A , CM000669.2:g.150946889G>A | GRCh38 |
| NC_000007.13:g.150643977G>A , CM000669.1:g.150643977G>A | GRCh37 |
| NC_000007.12:g.150274910G>A | NCBI36 |
| NG_008916.1:g.36038C>T , LRG_288:g.36038C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.4151C>T | ||
| ENST00000262186.10:c.3318C>T MANE Select | ENSP00000262186.5:p.Asp1106= | |
| ENST00000330883.9:c.2298C>T | ENSP00000328531.4:p.Asp766= | |
| ENST00000262186.9:c.3318C>T | ENSP00000262186.5:p.Asp1106= | |
| ENST00000330883.8:c.2298C>T | ENSP00000328531.4:p.Asp766= | |
| NM_000238.3:c.3318C>T , LRG_288t1:c.3318C>T | NP_000229.1:p.Asp1106= | |
| NM_172057.2:c.2298C>T , LRG_288t3:c.2298C>T | NP_742054.1:p.Asp766= | |
| XM_011516185.1:c.3018C>T | XP_011514487.1:p.Asp1006= | |
| XM_011516185.2:c.3018C>T | XP_011514487.1:p.Asp1006= | |
| XM_017012195.1:c.3168C>T | XP_016867684.1:p.Asp1056= | |
| XM_017012196.1:c.3141C>T | XP_016867685.1:p.Asp1047= | |
| NM_000238.4:c.3318C>T MANE Select | NP_000229.1:p.Asp1106= | |
| NM_172057.3:c.2298C>T | NP_742054.1:p.Asp766= |