Linked Data
dbSNP Id:
rs754431650
ExAC:
5:176831533 C / A
gnomAD v2:
5-176831533-C-A
gnomAD v3:
5-177404532-C-A
gnomAD v4:
5-177404532-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177404532C>A , CM000667.2:g.177404532C>A | GRCh38 |
| NC_000005.9:g.176831533C>A , CM000667.1:g.176831533C>A | GRCh37 |
| NC_000005.8:g.176764139C>A | NCBI36 |
| NG_007568.1:g.10045G>T , LRG_145:g.10045G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696192.1:c.*433G>T (F12) | ENSP00000512476.1:n.*433G>T | |
| ENST00000696193.1:c.*1137G>T (F12) | ENSP00000512477.1:n.*1137G>T | |
| ENST00000696194.1:c.*357G>T (F12) | ENSP00000512478.1:n.*357G>T | |
| ENST00000696195.1:n.3570G>T (F12) | ||
| ENST00000696200.1:n.870G>T (F12) | ||
| ENST00000696201.1:c.767G>T (F12) | ENSP00000512482.1:p.Arg256Leu | |
| ENST00000253496.4:c.767G>T (F12) MANE Select | ENSP00000253496.3:p.Arg256Leu | |
| ENST00000253496.3:c.767G>T (F12) | ENSP00000253496.3:p.Arg256Leu | |
| ENST00000502598.5:c.-45+1006C>A (GRK6) | ENSP00000422873.1:n.-45+1006C>A | |
| ENST00000503736.1:n.173-119G>T (F12) | ||
| ENST00000506296.5:c.-70C>A (GRK6) | ENSP00000421055.1:n.-70C>A | |
| NM_000505.3:c.767G>T , LRG_145t1:c.767G>T (F12) | NP_000496.2:p.Arg256Leu | |
| XM_011534461.1:c.767G>T (F12) | XP_011532763.1:p.Arg256Leu | |
| XM_011534462.1:c.431G>T (F12) | XP_011532764.1:p.Arg144Leu | |
| XM_011534462.2:c.431G>T (F12) | XP_011532764.1:p.Arg144Leu | |
| XM_017009773.2:c.1417-7232C>A (SLC34A1) | XP_016865262.1:n.1417-7232C>A | |
| NM_000505.4:c.767G>T (F12) MANE Select | NP_000496.2:p.Arg256Leu |