Linked Data
dbSNP Id:
rs11869286
gnomAD v2:
17-37813856-G-C
gnomAD v3:
17-39657603-G-C
gnomAD v4:
17-39657603-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39657603G>C , CM000679.2:g.39657603G>C | GRCh38 |
| NC_000017.10:g.37813856G>C , CM000679.1:g.37813856G>C | GRCh37 |
| NC_000017.9:g.35067382G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336308.10:c.298-172G>C MANE Select | ENSP00000337446.5:n.298-172G>C | |
| ENST00000336308.9:c.298-172G>C | ENSP00000337446.5:n.298-172G>C | |
| ENST00000394250.8:c.298-172G>C | ENSP00000377794.4:n.298-172G>C | |
| ENST00000443521.1:c.298-172G>C | ENSP00000411710.1:n.298-172G>C | |
| ENST00000460894.6:n.440-172G>C | ||
| ENST00000484773.6:n.496-172G>C | ||
| ENST00000488876.5:n.410-172G>C | ||
| ENST00000544210.6:c.298-172G>C | ENSP00000439869.2:n.298-172G>C | |
| ENST00000577248.5:c.298-172G>C | ENSP00000463460.1:n.298-172G>C | |
| ENST00000578232.5:n.354-172G>C | ||
| ENST00000578254.5:n.539-172G>C | ||
| ENST00000578577.5:c.298-172G>C | ENSP00000464472.1:n.298-172G>C | |
| ENST00000579479.5:c.298-172G>C | ENSP00000462483.1:n.298-172G>C | |
| ENST00000580551.5:n.442-172G>C | ||
| ENST00000580611.5:c.220-172G>C | ENSP00000463613.1:n.220-172G>C | |
| ENST00000581894.5:c.298-172G>C | ENSP00000462859.1:n.298-172G>C | |
| ENST00000582874.1:n.295-172G>C | ||
| ENST00000583419.5:c.298-172G>C | ENSP00000463681.1:n.298-172G>C | |
| ENST00000583582.5:n.439-172G>C | ||
| ENST00000583718.5:c.298-172G>C | ENSP00000464204.1:n.298-172G>C | |
| ENST00000585214.5:n.419-172G>C | ||
| NM_001165937.1:c.298-172G>C | NP_001159409.1:n.298-172G>C | |
| NM_001165938.1:c.298-172G>C | NP_001159410.1:n.298-172G>C | |
| NM_006804.3:c.298-172G>C | NP_006795.3:n.298-172G>C | |
| XM_006721646.2:c.298-172G>C | XP_006721709.1:n.298-172G>C | |
| XM_011524210.1:c.298-172G>C | XP_011522512.1:n.298-172G>C | |
| XM_011524211.1:c.298-172G>C | XP_011522513.1:n.298-172G>C | |
| XM_011524212.1:c.298-172G>C | XP_011522514.1:n.298-172G>C | |
| XM_011524213.1:c.298-172G>C | XP_011522515.1:n.298-172G>C | |
| XR_934353.1:n.440-172G>C | ||
| XR_934354.1:n.440-172G>C | ||
| XR_934355.1:n.440-172G>C | ||
| XM_017024041.2:c.298-172G>C | XP_016879530.1:n.298-172G>C | |
| XM_024450549.1:c.-470-172G>C | XP_024306317.1:n.-470-172G>C | |
| NM_006804.4:c.298-172G>C MANE Select | NP_006795.3:n.298-172G>C | |
| NM_001165937.2:c.298-172G>C | NP_001159409.1:n.298-172G>C | |
| NM_001165938.2:c.298-172G>C | NP_001159410.1:n.298-172G>C |