Linked Data
dbSNP Id:
rs550245324
gnomAD v2:
4-56467199-G-A
gnomAD v3:
4-55601032-G-A
gnomAD v4:
4-55601032-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55601032G>A , CM000666.2:g.55601032G>A | GRCh38 |
| NC_000004.11:g.56467199G>A , CM000666.1:g.56467199G>A | GRCh37 |
| NC_000004.10:g.56161956G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264218.7:c.436-457C>T MANE Select | ENSP00000264218.3:n.436-457C>T | |
| ENST00000505262.5:c.355-457C>T | ENSP00000424246.1:n.355-457C>T | |
| ENST00000507338.1:c.361-457C>T | ENSP00000422870.1:n.361-457C>T | |
| ENST00000509371.1:n.200-457C>T | ||
| ENST00000511469.5:c.388-457C>T | ENSP00000422399.1:n.388-457C>T | |
| ENST00000515325.5:n.428-457C>T | ||
| NM_001292045.1:c.388-457C>T | NP_001278974.1:n.388-457C>T | |
| NM_001292046.1:c.361-457C>T | NP_001278975.1:n.361-457C>T | |
| NM_006681.3:c.436-457C>T | NP_006672.1:n.436-457C>T | |
| NR_120489.1:n.428-457C>T | ||
| XM_011534367.1:c.385-457C>T | XP_011532669.1:n.385-457C>T | |
| XM_011534368.1:c.334-457C>T | XP_011532670.1:n.334-457C>T | |
| XM_011534367.2:c.385-457C>T | XP_011532669.1:n.385-457C>T | |
| XM_011534368.3:c.334-457C>T | XP_011532670.1:n.334-457C>T | |
| NM_006681.4:c.436-457C>T MANE Select | NP_006672.1:n.436-457C>T | |
| NM_001292045.2:c.388-457C>T | NP_001278974.1:n.388-457C>T | |
| NM_001292046.2:c.361-457C>T | NP_001278975.1:n.361-457C>T | |
| NR_120489.2:n.523-457C>T |