Linked Data
dbSNP Id:
rs1763227514
gnomAD v4:
5-177404308-C-T
MyVariant Identifiers:
chr5:g.176831309C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177404308C>T , CM000667.2:g.177404308C>T | GRCh38 |
| NC_000005.9:g.176831309C>T , CM000667.1:g.176831309C>T | GRCh37 |
| NC_000005.8:g.176763915C>T | NCBI36 |
| NG_007568.1:g.10269G>A , LRG_145:g.10269G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696192.1:c.*572G>A (F12) | ENSP00000512476.1:n.*572G>A | |
| ENST00000696193.1:c.*1276G>A (F12) | ENSP00000512477.1:n.*1276G>A | |
| ENST00000696194.1:c.*496G>A (F12) | ENSP00000512478.1:n.*496G>A | |
| ENST00000696195.1:n.3709G>A (F12) | ||
| ENST00000696200.1:n.1009G>A (F12) | ||
| ENST00000696201.1:c.906G>A (F12) | ENSP00000512482.1:p.Ala302= | |
| ENST00000253496.4:c.906G>A (F12) MANE Select | ENSP00000253496.3:p.Ala302= | |
| ENST00000253496.3:c.906G>A (F12) | ENSP00000253496.3:p.Ala302= | |
| ENST00000502598.5:c.-45+782C>T (GRK6) | ENSP00000422873.1:n.-45+782C>T | |
| ENST00000502854.5:n.165G>A (F12) | ||
| ENST00000503736.1:n.278G>A (F12) | ||
| ENST00000510358.5:n.165G>A (F12) | ||
| NM_000505.3:c.906G>A , LRG_145t1:c.906G>A (F12) | NP_000496.2:p.Ala302= | |
| XM_011534461.1:c.906G>A (F12) | XP_011532763.1:p.Ala302= | |
| XM_011534462.1:c.570G>A (F12) | XP_011532764.1:p.Ala190= | |
| XM_011534462.2:c.570G>A (F12) | XP_011532764.1:p.Ala190= | |
| XM_017009773.2:c.1416+7234C>T (SLC34A1) | XP_016865262.1:n.1416+7234C>T | |
| NM_000505.4:c.906G>A (F12) MANE Select | NP_000496.2:p.Ala302= |