Linked Data
dbSNP Id:
rs779806993
ExAC:
5:176831581 G / A
gnomAD v2:
5-176831581-G-A
gnomAD v3:
5-177404580-G-A
gnomAD v4:
5-177404580-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177404580G>A , CM000667.2:g.177404580G>A | GRCh38 |
| NC_000005.9:g.176831581G>A , CM000667.1:g.176831581G>A | GRCh37 |
| NC_000005.8:g.176764187G>A | NCBI36 |
| NG_007568.1:g.9997C>T , LRG_145:g.9997C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696192.1:c.*385C>T (F12) | ENSP00000512476.1:n.*385C>T | |
| ENST00000696193.1:c.*1089C>T (F12) | ENSP00000512477.1:n.*1089C>T | |
| ENST00000696194.1:c.*309C>T (F12) | ENSP00000512478.1:n.*309C>T | |
| ENST00000696195.1:n.3522C>T (F12) | ||
| ENST00000696200.1:n.822C>T (F12) | ||
| ENST00000696201.1:c.719C>T (F12) | ENSP00000512482.1:p.Pro240Leu | |
| ENST00000253496.4:c.719C>T (F12) MANE Select | ENSP00000253496.3:p.Pro240Leu | |
| ENST00000253496.3:c.719C>T (F12) | ENSP00000253496.3:p.Pro240Leu | |
| ENST00000502598.5:c.-45+1054G>A (GRK6) | ENSP00000422873.1:n.-45+1054G>A | |
| ENST00000503736.1:n.173-167C>T (F12) | ||
| ENST00000506296.5:c.-45+23G>A (GRK6) | ENSP00000421055.1:n.-45+23G>A | |
| NM_000505.3:c.719C>T , LRG_145t1:c.719C>T (F12) | NP_000496.2:p.Pro240Leu | |
| XM_011534461.1:c.719C>T (F12) | XP_011532763.1:p.Pro240Leu | |
| XM_011534462.1:c.383C>T (F12) | XP_011532764.1:p.Pro128Leu | |
| XM_011534462.2:c.383C>T (F12) | XP_011532764.1:p.Pro128Leu | |
| XM_017009773.2:c.1417-7184G>A (SLC34A1) | XP_016865262.1:n.1417-7184G>A | |
| NM_000505.4:c.719C>T (F12) MANE Select | NP_000496.2:p.Pro240Leu |