Linked Data
ClinVar Variation Id:
213503
dbSNP Id:
rs375495397
gnomAD v2:
X-153590057-C-G
gnomAD v3:
X-154361689-C-G
gnomAD v4:
X-154361689-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154361689C>G , CM000685.2:g.154361689C>G | GRCh38 |
| NC_000023.10:g.153590057C>G , CM000685.1:g.153590057C>G | GRCh37 |
| NC_000023.9:g.153243251C>G | NCBI36 |
| NG_011506.1:g.17950G>C | |
| NG_011506.2:g.17950G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.2925G>C | ENSP00000353467.4:p.Lys975Asn | |
| ENST00000369850.10:c.2925G>C MANE Select | ENSP00000358866.3:p.Lys975Asn | |
| ENST00000369856.8:c.2844G>C | ENSP00000358872.4:p.Lys948Asn | |
| ENST00000422373.6:c.2925G>C | ENSP00000416926.2:p.Lys975Asn | |
| ENST00000610817.5:c.2982G>C | ENSP00000480593.2:n.2982G>C | |
| ENST00000673639.2:c.279+3747G>C | ||
| ENST00000676696.1:c.3204G>C | ENSP00000503392.1:n.3204G>C | |
| ENST00000344736.8:c.2925G>C | ENSP00000358863.3:p.Lys975Asn | |
| ENST00000360319.8:c.2925G>C | ENSP00000353467.4:p.Lys975Asn | |
| ENST00000369850.7:c.2925G>C | ENSP00000358866.3:p.Lys975Asn | |
| ENST00000369856.7:c.2844G>C | ENSP00000358872.4:p.Lys948Asn | |
| ENST00000420627.5:c.2881G>C | ENSP00000408921.1:n.2881G>C | |
| ENST00000422373.5:c.2925G>C | ENSP00000416926.1:p.Lys975Asn | |
| ENST00000610817.4:c.2844G>C | ENSP00000480593.1:p.Lys948Asn | |
| NM_001110556.1:c.2925G>C | NP_001104026.1:p.Lys975Asn | |
| NM_001456.3:c.2925G>C | NP_001447.2:p.Lys975Asn | |
| XM_011531127.1:c.2925G>C | XP_011529429.1:p.Lys975Asn | |
| XM_011531128.1:c.2925G>C | XP_011529430.1:p.Lys975Asn | |
| XM_011531129.1:c.2925G>C | XP_011529431.1:p.Lys975Asn | |
| XM_011531130.1:c.2925G>C | XP_011529432.1:p.Lys975Asn | |
| XM_011531131.1:c.2724G>C | XP_011529433.1:p.Lys908Asn | |
| NM_001110556.2:c.2925G>C MANE Select | NP_001104026.1:p.Lys975Asn | |
| NM_001456.4:c.2925G>C | NP_001447.2:p.Lys975Asn |