Linked Data
dbSNP Id:
rs777982293
ExAC:
5:176831017 T / TG
gnomAD v2:
5-176831017-T-TG
gnomAD v4:
5-177404016-T-TG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177404017dup , CM000667.2:g.177404017dup | GRCh38 |
| NC_000005.9:g.176831018dup , CM000667.1:g.176831018dup | GRCh37 |
| NC_000005.8:g.176763624dup | NCBI36 |
| NG_007568.1:g.10560dup , LRG_145:g.10560dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696192.1:c.*758dup (F12) | ENSP00000512476.1:n.*758dup | |
| ENST00000696193.1:c.*1479dup (F12) | ENSP00000512477.1:n.*1479dup | |
| ENST00000696194.1:c.*682dup (F12) | ENSP00000512478.1:n.*682dup | |
| ENST00000696195.1:n.3895dup (F12) | ||
| ENST00000696200.1:n.1195dup (F12) | ||
| ENST00000696201.1:c.1092dup (F12) | ENSP00000512482.1:p.Lys365GlnfsTer? | |
| ENST00000253496.4:c.1092dup (F12) MANE Select | ENSP00000253496.3:p.Lys365GlnfsTer? | |
| ENST00000253496.3:c.1092dup (F12) | ENSP00000253496.3:p.Lys365GlnfsTer? | |
| ENST00000502598.5:c.-45+491dup (GRK6) | ENSP00000422873.1:n.-45+491dup | |
| ENST00000502854.5:n.351dup (F12) | ||
| ENST00000503736.1:n.464dup (F12) | ||
| ENST00000510358.5:n.456dup (F12) | ||
| NM_000505.3:c.1092dup , LRG_145t1:c.1092dup (F12) | NP_000496.2:p.Lys365GlnfsTer? | |
| XM_011534461.1:c.1092dup (F12) | XP_011532763.1:p.Lys365GlnfsTer? | |
| XM_011534462.1:c.756dup (F12) | XP_011532764.1:p.Lys253GlnfsTer? | |
| XM_011534462.2:c.756dup (F12) | XP_011532764.1:p.Lys253GlnfsTer? | |
| XM_017009773.2:c.1416+6943dup (SLC34A1) | XP_016865262.1:n.1416+6943dup | |
| NM_000505.4:c.1092dup (F12) MANE Select | NP_000496.2:p.Lys365GlnfsTer? |