Linked Data
dbSNP Id:
rs761867405
ExAC:
16:8898738 A / C
gnomAD v2:
16-8898738-A-C
gnomAD v3:
16-8804881-A-C
gnomAD v4:
16-8804881-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8804881A>C , CM000678.2:g.8804881A>C | GRCh38 |
| NC_000016.9:g.8898738A>C , CM000678.1:g.8898738A>C | GRCh37 |
| NC_000016.8:g.8806239A>C | NCBI36 |
| NG_009209.1:g.12069A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682008.1:c.255+38A>C | ENSP00000507849.1:n.255+38A>C | |
| ENST00000682393.1:c.178+2971A>C | ENSP00000506774.1:n.178+2971A>C | |
| ENST00000683094.1:c.179-1435A>C | ENSP00000508230.1:n.179-1435A>C | |
| ENST00000683274.1:c.255+38A>C | ENSP00000507262.1:n.255+38A>C | |
| ENST00000683435.1:c.*251+38A>C | ENSP00000508092.1:n.*251+38A>C | |
| ENST00000268261.9:c.255+38A>C MANE Select | ENSP00000268261.4:n.255+38A>C | |
| ENST00000268261.8:c.255+38A>C | ENSP00000268261.4:n.255+38A>C | |
| ENST00000562318.5:c.179-1435A>C | ENSP00000454395.1:n.179-1435A>C | |
| ENST00000562448.1:n.220-1435A>C | ||
| ENST00000564030.5:n.317+38A>C | ||
| ENST00000564069.1:c.226+38A>C | ||
| ENST00000565221.5:c.178+2971A>C | ENSP00000457932.1:n.178+2971A>C | |
| ENST00000565896.5:c.*145+2492A>C | ENSP00000456024.1:n.*145+2492A>C | |
| ENST00000566540.5:c.179-1435A>C | ENSP00000454284.1:n.179-1435A>C | |
| ENST00000566604.5:c.255+38A>C | ENSP00000456774.1:n.255+38A>C | |
| ENST00000566983.5:c.174+38A>C | ENSP00000457956.1:n.174+38A>C | |
| ENST00000568602.5:c.*108+38A>C | ENSP00000455066.1:n.*108+38A>C | |
| ENST00000569958.5:c.178+2971A>C | ENSP00000456302.1:n.178+2971A>C | |
| ENST00000570076.5:c.178+2971A>C | ENSP00000456961.1:n.178+2971A>C | |
| ENST00000570134.5:c.179-1435A>C | ENSP00000456275.1:n.179-1435A>C | |
| NM_000303.2:c.255+38A>C | NP_000294.1:n.255+38A>C | |
| XM_005255372.3:c.255+38A>C | XP_005255429.1:n.255+38A>C | |
| XM_005255373.3:c.7-1435A>C | XP_005255430.1:n.7-1435A>C | |
| XM_005255374.3:c.7-1435A>C | XP_005255431.1:n.7-1435A>C | |
| XM_011522538.1:c.255+38A>C | XP_011520840.1:n.255+38A>C | |
| XM_011522539.1:c.-29+2971A>C | XP_011520841.1:n.-29+2971A>C | |
| XM_005255374.4:c.7-1435A>C | XP_005255431.1:n.7-1435A>C | |
| NM_000303.3:c.255+38A>C MANE Select | NP_000294.1:n.255+38A>C |