Linked Data
dbSNP Id:
rs1557284819
gnomAD v2:
X-154221429-G-A
gnomAD v3:
X-154993154-G-A
gnomAD v4:
X-154993154-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154993154G>A , CM000685.2:g.154993154G>A | GRCh38 |
| NC_000023.10:g.154221429G>A , CM000685.1:g.154221429G>A | GRCh37 |
| NC_000023.9:g.153874623G>A | NCBI36 |
| NG_011403.1:g.34570C>T | |
| NG_011403.2:g.34570C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.389-6C>T MANE Select | ENSP00000353393.4:n.389-6C>T | |
| ENST00000647125.1:c.*175-6C>T | ENSP00000496062.1:n.*175-6C>T | |
| ENST00000360256.8:c.389-6C>T | ENSP00000353393.4:n.389-6C>T | |
| ENST00000423959.5:c.284-6C>T | ENSP00000409446.1:n.284-6C>T | |
| ENST00000453950.1:c.371-6C>T | ENSP00000389153.1:n.371-6C>T | |
| NM_000132.3:c.389-6C>T | NP_000123.1:n.389-6C>T | |
| XM_011531126.1:c.284-6C>T | XP_011529428.1:n.284-6C>T | |
| NM_000132.4:c.389-6C>T MANE Select | NP_000123.1:n.389-6C>T |