Linked Data
dbSNP Id:
rs1208256971
gnomAD v3:
X-37783849-C-T
gnomAD v4:
X-37783849-C-T
MyVariant Identifiers:
chrX:g.37783849C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37783849C>T , CM000685.2:g.37783849C>T | GRCh38 |
| NC_000023.10:g.37643102C>T , CM000685.1:g.37643102C>T | GRCh37 |
| NC_000023.9:g.37528046C>T | NCBI36 |
| NG_009065.1:g.8833C>T , LRG_53:g.8833C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.252+249C>T | ENSP00000512461.1:n.252+249C>T | |
| ENST00000696171.1:c.156+249C>T | ENSP00000512462.1:n.156+249C>T | |
| ENST00000696172.1:c.252+249C>T | ENSP00000512463.1:n.252+249C>T | |
| ENST00000696173.1:n.260+249C>T | ||
| ENST00000378588.5:c.252+249C>T MANE Select | ENSP00000367851.4:n.252+249C>T | |
| ENST00000378588.4:c.252+249C>T | ENSP00000367851.4:n.252+249C>T | |
| ENST00000465127.1:c.171+357849C>T | ENSP00000417050.1:n.171+357849C>T | |
| NM_000397.3:c.252+249C>T , LRG_53t1:c.252+249C>T | NP_000388.2:n.252+249C>T | |
| XM_011543890.1:c.-179+249C>T | XP_011542192.1:n.-179+249C>T | |
| NM_000397.4:c.252+249C>T MANE Select | NP_000388.2:n.252+249C>T |