Linked Data
dbSNP Id:
rs1240384097
gnomAD v2:
5-176831153-C-T
gnomAD v3:
5-177404152-C-T
gnomAD v4:
5-177404152-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177404152C>T , CM000667.2:g.177404152C>T | GRCh38 |
| NC_000005.9:g.176831153C>T , CM000667.1:g.176831153C>T | GRCh37 |
| NC_000005.8:g.176763759C>T | NCBI36 |
| NG_007568.1:g.10425G>A , LRG_145:g.10425G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696192.1:c.*684+44G>A (F12) | ENSP00000512476.1:n.*684+44G>A | |
| ENST00000696193.1:c.*1389-45G>A (F12) | ENSP00000512477.1:n.*1389-45G>A | |
| ENST00000696194.1:c.*608+44G>A (F12) | ENSP00000512478.1:n.*608+44G>A | |
| ENST00000696195.1:n.3821+44G>A (F12) | ||
| ENST00000696200.1:n.1121+44G>A (F12) | ||
| ENST00000696201.1:c.1018+44G>A (F12) | ENSP00000512482.1:n.1018+44G>A | |
| ENST00000253496.4:c.1018+44G>A (F12) MANE Select | ENSP00000253496.3:n.1018+44G>A | |
| ENST00000253496.3:c.1018+44G>A (F12) | ENSP00000253496.3:n.1018+44G>A | |
| ENST00000502598.5:c.-45+626C>T (GRK6) | ENSP00000422873.1:n.-45+626C>T | |
| ENST00000502854.5:n.277+44G>A (F12) | ||
| ENST00000503736.1:n.390+44G>A (F12) | ||
| ENST00000510358.5:n.321G>A (F12) | ||
| NM_000505.3:c.1018+44G>A , LRG_145t1:c.1018+44G>A (F12) | NP_000496.2:n.1018+44G>A | |
| XM_011534461.1:c.1018+44G>A (F12) | XP_011532763.1:n.1018+44G>A | |
| XM_011534462.1:c.682+44G>A (F12) | XP_011532764.1:n.682+44G>A | |
| XM_011534462.2:c.682+44G>A (F12) | XP_011532764.1:n.682+44G>A | |
| XM_017009773.2:c.1416+7078C>T (SLC34A1) | XP_016865262.1:n.1416+7078C>T | |
| NM_000505.4:c.1018+44G>A (F12) MANE Select | NP_000496.2:n.1018+44G>A |