Linked Data
dbSNP Id:
rs758359442
ExAC:
16:56388989 A / G
gnomAD v2:
16-56388989-A-G
gnomAD v4:
16-56355077-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56355077A>G , CM000678.2:g.56355077A>G | GRCh38 |
| NC_000016.9:g.56388989A>G , CM000678.1:g.56388989A>G | GRCh37 |
| NC_000016.8:g.54946490A>G | NCBI36 |
| NG_042800.1:g.168739A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262493.12:c.*24A>G MANE Select | ENSP00000262493.6:n.*24A>G | |
| ENST00000562316.6:c.545-1026A>G | ENSP00000457238.2:n.545-1026A>G | |
| ENST00000564727.2:c.303+90A>G | ENSP00000454971.2:n.303+90A>G | |
| ENST00000568375.2:c.327A>G | ||
| ENST00000638210.1:n.1389A>G | ||
| ENST00000638705.1:c.*24A>G | ENSP00000491223.1:n.*24A>G | |
| ENST00000638836.1:n.999A>G | ||
| ENST00000639251.1:n.990A>G | ||
| ENST00000639268.1:c.724A>G | ||
| ENST00000639341.1:c.614A>G | ||
| ENST00000639770.1:c.1127A>G | ENSP00000491999.1:n.1127A>G | |
| ENST00000640390.1:n.1019A>G | ||
| ENST00000640469.1:c.453A>G | ENSP00000491875.1:n.453A>G | |
| ENST00000640560.1:n.865A>G | ||
| ENST00000640893.1:c.*487A>G | ENSP00000492677.1:n.*487A>G | |
| ENST00000262493.10:c.*24A>G | ENSP00000262493.6:n.*24A>G | |
| ENST00000564727.1:c.309A>G | ENSP00000454971.1:n.309A>G | |
| ENST00000568375.1:n.327A>G | ||
| NM_020988.2:c.*24A>G | NP_066268.1:n.*24A>G | |
| XM_011523003.1:c.*24A>G | XP_011521305.1:n.*24A>G | |
| XM_011523003.3:c.*24A>G | XP_011521305.1:n.*24A>G | |
| NM_020988.3:c.*24A>G MANE Select | NP_066268.1:n.*24A>G |