Linked Data
dbSNP Id:
rs1407110780
gnomAD v2:
6-160497995-A-C
gnomAD v3:
6-160076963-A-C
gnomAD v4:
6-160076963-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160076963A>C , CM000668.2:g.160076963A>C | GRCh38 |
| NC_000006.11:g.160497995A>C , CM000668.1:g.160497995A>C | GRCh37 |
| NC_000006.10:g.160417985A>C | NCBI36 |
| NG_011785.3:g.112865A>C | |
| NG_011785.4:g.112865A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356956.6:c.5316+967A>C MANE Select | ENSP00000349437.1:n.5316+967A>C | |
| ENST00000650503.1:n.1926+967A>C | ||
| ENST00000676781.1:c.*3424+967A>C | ENSP00000504419.1:n.*3424+967A>C | |
| ENST00000677704.1:c.*1187+967A>C | ENSP00000503314.1:n.*1187+967A>C | |
| ENST00000356956.5:c.5316+967A>C | ENSP00000349437.1:n.5316+967A>C | |
| NM_000876.2:c.5316+967A>C | NP_000867.2:n.5316+967A>C | |
| NM_000876.3:c.5316+967A>C | NP_000867.2:n.5316+967A>C | |
| NM_000876.4:c.5316+967A>C MANE Select | NP_000867.3:n.5316+967A>C |