Linked Data
dbSNP Id:
rs6716901
gnomAD v2:
2-172673453-G-A
gnomAD v3:
2-171816943-G-A
gnomAD v4:
2-171816943-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.171816943G>A , CM000664.2:g.171816943G>A | GRCh38 |
| NC_000002.11:g.172673453G>A , CM000664.1:g.172673453G>A | GRCh37 |
| NC_000002.10:g.172381699G>A | NCBI36 |
| NG_011781.1:g.82361C>T | |
| NG_011781.2:g.82361C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000422440.7:c.931-1741C>T MANE Select | ENSP00000388658.2:n.931-1741C>T | |
| ENST00000263812.8:c.*551-1741C>T | ENSP00000263812.4:n.*551-1741C>T | |
| ENST00000422440.6:c.931-1741C>T | ENSP00000388658.2:n.931-1741C>T | |
| ENST00000485880.1:n.459-1741C>T | ||
| NM_003705.4:c.931-1741C>T | NP_003696.2:n.931-1741C>T | |
| NR_047549.1:n.907-1741C>T | ||
| XM_005246923.3:c.880-1741C>T | XP_005246980.1:n.880-1741C>T | |
| XM_011512069.1:c.931-1741C>T | XP_011510371.1:n.931-1741C>T | |
| XM_011512070.1:c.658-1741C>T | XP_011510372.1:n.658-1741C>T | |
| XM_011512070.3:c.658-1741C>T | XP_011510372.1:n.658-1741C>T | |
| NM_003705.5:c.931-1741C>T MANE Select | NP_003696.2:n.931-1741C>T | |
| NR_047549.2:n.845-1741C>T |