Linked Data
dbSNP Id:
rs781850604
ExAC:
X:154091314 C / T
gnomAD v2:
X-154091314-C-T
gnomAD v3:
X-154863039-C-T
gnomAD v4:
X-154863039-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154863039C>T , CM000685.2:g.154863039C>T | GRCh38 |
| NC_000023.10:g.154091314C>T , CM000685.1:g.154091314C>T | GRCh37 |
| NC_000023.9:g.153744508C>T | NCBI36 |
| NG_011403.1:g.164685G>A | |
| NG_011403.2:g.164685G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.6574+44G>A MANE Select | ENSP00000353393.4:n.6574+44G>A | |
| ENST00000644698.1:c.307+44G>A | ENSP00000495706.1:n.307+44G>A | |
| ENST00000330287.10:c.169+44G>A | ENSP00000327895.6:n.169+44G>A | |
| ENST00000360256.8:c.6574+44G>A | ENSP00000353393.4:n.6574+44G>A | |
| NM_000132.3:c.6574+44G>A | NP_000123.1:n.6574+44G>A | |
| NM_019863.2:c.169+44G>A | NP_063916.1:n.169+44G>A | |
| XM_011531126.1:c.6469+44G>A | XP_011529428.1:n.6469+44G>A | |
| NM_000132.4:c.6574+44G>A MANE Select | NP_000123.1:n.6574+44G>A | |
| NM_019863.3:c.169+44G>A | NP_063916.1:n.169+44G>A |