Linked Data
ClinVar Variation Id:
217115
dbSNP Id:
rs752669339
ExAC:
10:97370017 C / G
gnomAD v2:
10-97370017-C-G
gnomAD v3:
10-95610260-C-G
gnomAD v4:
10-95610260-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95610260C>G , CM000672.2:g.95610260C>G | GRCh38 |
| NC_000010.10:g.97370017C>G , CM000672.1:g.97370017C>G | GRCh37 |
| NC_000010.9:g.97360007C>G | NCBI36 |
| NG_012258.1:g.51551G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371224.7:c.2143G>C MANE Select | ENSP00000360268.2:p.Asp715His | |
| ENST00000371221.3:c.2137G>C | ENSP00000360265.3:p.Asp713His | |
| ENST00000371224.6:c.2143G>C | ENSP00000360268.2:p.Asp715His | |
| NM_001017423.1:c.2137G>C | NP_001017423.1:p.Asp713His | |
| NM_002860.3:c.2143G>C | NP_002851.2:p.Asp715His | |
| XM_006717933.1:c.2143G>C | XP_006717996.1:p.Asp715His | |
| XM_011540001.1:c.1810G>C | XP_011538303.1:p.Asp604His | |
| NM_001323412.1:c.1810G>C | NP_001310341.1:p.Asp604His | |
| NM_001323413.1:c.2143G>C | NP_001310342.1:p.Asp715His | |
| NM_001323414.1:c.2143G>C | NP_001310343.1:p.Asp715His | |
| NM_001323415.1:c.2137G>C | NP_001310344.1:p.Asp713His | |
| NM_001323416.1:c.1810G>C | NP_001310345.1:p.Asp604His | |
| NM_001323417.1:c.2038G>C | NP_001310346.1:p.Asp680His | |
| NM_001323418.1:c.1804G>C | NP_001310347.1:p.Asp602His | |
| NM_001323419.1:c.1507G>C | NP_001310348.1:p.Asp503His | |
| XM_024448094.1:c.2245G>C | XP_024303862.1:p.Asp749His | |
| XM_024448095.1:c.2245G>C | XP_024303863.1:p.Asp749His | |
| XM_024448096.1:c.2239G>C | XP_024303864.1:p.Asp747His | |
| XM_024448097.1:c.1912G>C | XP_024303865.1:p.Asp638His | |
| NM_002860.4:c.2143G>C MANE Select | NP_002851.2:p.Asp715His | |
| NM_001017423.2:c.2137G>C | NP_001017423.1:p.Asp713His | |
| NM_001323412.2:c.1810G>C | NP_001310341.1:p.Asp604His | |
| NM_001323413.2:c.2143G>C | NP_001310342.1:p.Asp715His | |
| NM_001323414.2:c.2143G>C | NP_001310343.1:p.Asp715His | |
| NM_001323415.2:c.2137G>C | NP_001310344.1:p.Asp713His | |
| NM_001323416.2:c.1810G>C | NP_001310345.1:p.Asp604His | |
| NM_001323417.2:c.2038G>C | NP_001310346.1:p.Asp680His | |
| NM_001323418.2:c.1804G>C | NP_001310347.1:p.Asp602His | |
| NM_001323419.2:c.1507G>C | NP_001310348.1:p.Asp503His |