Linked Data
dbSNP Id:
rs782436214
ExAC:
X:37664230 G / C
gnomAD v2:
X-37664230-G-C
gnomAD v3:
X-37804977-G-C
gnomAD v4:
X-37804977-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37804977G>C , CM000685.2:g.37804977G>C | GRCh38 |
| NC_000023.10:g.37664230G>C , CM000685.1:g.37664230G>C | GRCh37 |
| NC_000023.9:g.37549174G>C | NCBI36 |
| NG_009065.1:g.29961G>C , LRG_53:g.29961G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.*661-29G>C | ENSP00000512461.1:n.*661-29G>C | |
| ENST00000696171.1:c.1056-29G>C | ENSP00000512462.1:n.1056-29G>C | |
| ENST00000378588.5:c.1152-29G>C MANE Select | ENSP00000367851.4:n.1152-29G>C | |
| ENST00000378588.4:c.1152-29G>C | ENSP00000367851.4:n.1152-29G>C | |
| ENST00000465127.1:c.171+378977G>C | ENSP00000417050.1:n.171+378977G>C | |
| NM_000397.3:c.1152-29G>C , LRG_53t1:c.1152-29G>C | NP_000388.2:n.1152-29G>C | |
| XM_011543890.1:c.846-29G>C | XP_011542192.1:n.846-29G>C | |
| NM_000397.4:c.1152-29G>C MANE Select | NP_000388.2:n.1152-29G>C |