Linked Data
dbSNP Id:
rs1315949172
gnomAD v2:
X-154225220-C-G
gnomAD v3:
X-154996945-C-G
gnomAD v4:
X-154996945-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154996945C>G , CM000685.2:g.154996945C>G | GRCh38 |
| NC_000023.10:g.154225220C>G , CM000685.1:g.154225220C>G | GRCh37 |
| NC_000023.9:g.153878414C>G | NCBI36 |
| NG_011403.1:g.30779G>C | |
| NG_011403.2:g.30779G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.388+28G>C MANE Select | ENSP00000353393.4:n.388+28G>C | |
| ENST00000647125.1:c.*174+28G>C | ENSP00000496062.1:n.*174+28G>C | |
| ENST00000360256.8:c.388+28G>C | ENSP00000353393.4:n.388+28G>C | |
| ENST00000423959.5:c.283+28G>C | ENSP00000409446.1:n.283+28G>C | |
| ENST00000453950.1:c.370+28G>C | ENSP00000389153.1:n.370+28G>C | |
| NM_000132.3:c.388+28G>C | NP_000123.1:n.388+28G>C | |
| XM_011531126.1:c.283+28G>C | XP_011529428.1:n.283+28G>C | |
| NM_000132.4:c.388+28G>C MANE Select | NP_000123.1:n.388+28G>C |