Linked Data
dbSNP Id:
rs192393197
ExAC:
X:154066055 G / A
gnomAD v2:
X-154066055-G-A
gnomAD v3:
X-154837780-G-A
gnomAD v4:
X-154837780-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154837780G>A , CM000685.2:g.154837780G>A | GRCh38 |
| NC_000023.10:g.154066055G>A , CM000685.1:g.154066055G>A | GRCh37 |
| NC_000023.9:g.153719249G>A | NCBI36 |
| NG_011403.1:g.189944C>T | |
| NG_033065.1:g.1883C>T | |
| NG_011403.2:g.189944C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.6901-28C>T MANE Select | ENSP00000353393.4:n.6901-28C>T | |
| ENST00000644698.1:c.634-28C>T | ENSP00000495706.1:n.634-28C>T | |
| ENST00000330287.10:c.496-28C>T | ENSP00000327895.6:n.496-28C>T | |
| ENST00000360256.8:c.6901-28C>T | ENSP00000353393.4:n.6901-28C>T | |
| NM_000132.3:c.6901-28C>T | NP_000123.1:n.6901-28C>T | |
| NM_019863.2:c.496-28C>T | NP_063916.1:n.496-28C>T | |
| XM_011531126.1:c.6796-28C>T | XP_011529428.1:n.6796-28C>T | |
| NM_000132.4:c.6901-28C>T MANE Select | NP_000123.1:n.6901-28C>T | |
| NM_019863.3:c.496-28C>T | NP_063916.1:n.496-28C>T |