Linked Data
dbSNP Id:
rs13208776
gnomAD v2:
6-168941624-G-C
gnomAD v3:
6-168540944-G-C
gnomAD v4:
6-168540944-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.168540944G>C , CM000668.2:g.168540944G>C | GRCh38 |
| NC_000006.11:g.168941624G>C , CM000668.1:g.168941624G>C | GRCh37 |
| NC_000006.10:g.168684473G>C | NCBI36 |
| NG_032781.1:g.104794G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356284.7:c.464-2681G>C MANE Select | ENSP00000348630.3:n.464-2681G>C | |
| ENST00000354536.9:c.464-2681G>C | ENSP00000346537.5:n.464-2681G>C | |
| ENST00000356284.6:c.464-2681G>C | ENSP00000348630.2:n.464-2681G>C | |
| NM_001166412.1:c.464-2681G>C | NP_001159884.1:n.464-2681G>C | |
| NM_022138.2:c.464-2681G>C | NP_071421.1:n.464-2681G>C | |
| XM_011536065.1:c.464-2681G>C | XP_011534367.1:n.464-2681G>C | |
| XM_011536066.1:c.464-2681G>C | XP_011534368.1:n.464-2681G>C | |
| NM_001166412.2:c.464-2681G>C MANE Select | NP_001159884.1:n.464-2681G>C | |
| NM_022138.3:c.464-2681G>C | NP_071421.1:n.464-2681G>C |