Linked Data
dbSNP Id:
rs1292107143
gnomAD v2:
4-74280665-G-T
gnomAD v3:
4-73414948-G-T
gnomAD v4:
4-73414948-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73414948G>T , CM000666.2:g.73414948G>T | GRCh38 |
| NC_000004.11:g.74280665G>T , CM000666.1:g.74280665G>T | GRCh37 |
| NC_000004.10:g.74499529G>T | NCBI36 |
| NG_009291.1:g.15694G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.1059-87G>T MANE Select | ENSP00000295897.4:n.1059-87G>T | |
| ENST00000295897.8:c.1059-87G>T | ENSP00000295897.4:n.1059-87G>T | |
| ENST00000401494.7:c.714-87G>T | ENSP00000384695.3:n.714-87G>T | |
| ENST00000415165.6:c.483-87G>T | ENSP00000401820.2:n.483-87G>T | |
| ENST00000476441.6:c.*338-87G>T | ENSP00000423727.1:n.*338-87G>T | |
| ENST00000484992.1:n.379-87G>T | ||
| ENST00000503124.5:c.609-87G>T | ENSP00000421027.1:n.609-87G>T | |
| ENST00000504043.1:n.62-87G>T | ||
| ENST00000505649.5:n.745-87G>T | ||
| ENST00000509063.5:c.1059-87G>T | ENSP00000422784.1:n.1059-87G>T | |
| ENST00000511370.1:c.592-87G>T | ||
| ENST00000621085.4:c.491-158G>T | ENSP00000483421.1:n.491-158G>T | |
| ENST00000621628.4:c.487-154G>T | ENSP00000480485.1:n.487-154G>T | |
| NM_000477.5:c.1059-87G>T | NP_000468.1:n.1059-87G>T | |
| NM_000477.6:c.1059-87G>T | NP_000468.1:n.1059-87G>T | |
| NM_000477.7:c.1059-87G>T MANE Select | NP_000468.1:n.1059-87G>T |