Linked Data
ClinVar Variation Id:
4975
ClinVar RCV Id:
RCV000005263
RCV000269126
RCV000266053
RCV001094725
RCV001705581
RCV002345232
RCV002490320
RCV003982825
dbSNP Id:
rs11887534
ExAC:
2:44066247 G / C
gnomAD v2:
2-44066247-G-C
gnomAD v3:
2-43839108-G-C
gnomAD v4:
2-43839108-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43839108G>C , CM000664.2:g.43839108G>C | GRCh38 |
| NC_000002.11:g.44066247G>C , CM000664.1:g.44066247G>C | GRCh37 |
| NC_000002.10:g.43919751G>C | NCBI36 |
| NG_008883.1:g.4712C>G | |
| NG_008884.1:g.5145G>C | |
| NG_008884.2:g.12167G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.55G>C MANE Select | ENSP00000272286.2:p.Asp19His | |
| ENST00000643284.1:n.521-5399G>C | ||
| ENST00000644611.1:c.76-5399G>C | ENSP00000495423.1:n.76-5399G>C | |
| ENST00000272286.2:c.55G>C | ENSP00000272286.2:p.Asp19His | |
| NM_022437.2:c.55G>C | NP_071882.1:p.Asp19His | |
| XM_005264483.2:c.55G>C | XP_005264540.1:p.Asp19His | |
| XM_011533029.1:c.76-5399G>C | XP_011531331.1:n.76-5399G>C | |
| XM_011533030.1:c.76-5399G>C | XP_011531332.1:n.76-5399G>C | |
| XM_011533031.1:c.-153-5399G>C | XP_011531333.1:n.-153-5399G>C | |
| XR_939707.1:n.566-5399G>C | ||
| NM_001357321.1:c.55G>C | NP_001344250.1:p.Asp19His | |
| XM_011533029.2:c.76-5399G>C | XP_011531331.1:n.76-5399G>C | |
| XM_011533030.2:c.76-5399G>C | XP_011531332.1:n.76-5399G>C | |
| XR_001738891.1:n.580-5399G>C | ||
| XR_939707.2:n.580-5399G>C | ||
| NM_022437.3:c.55G>C MANE Select | NP_071882.1:p.Asp19His | |
| NM_001357321.2:c.55G>C | NP_001344250.1:p.Asp19His |