Linked Data
ClinVar Variation Id:
191321
ClinVar RCV Id:
RCV000171513
dbSNP Id:
rs786205643
gnomAD v4:
3-49132281-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49132281T>G , CM000665.2:g.49132281T>G | GRCh38 |
| NC_000003.11:g.49169714T>G , CM000665.1:g.49169714T>G | GRCh37 |
| NC_000003.10:g.49144718T>G | NCBI36 |
| NG_008094.1:g.5886A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000305544.9:c.374A>C MANE Select | ENSP00000307156.4:p.Gln125Pro | |
| ENST00000305544.8:c.374A>C | ENSP00000307156.4:p.Gln125Pro | |
| ENST00000418109.5:c.374A>C | ENSP00000388325.1:p.Gln125Pro | |
| ENST00000494831.1:c.-27-127A>C | ENSP00000444751.1:n.-27-127A>C | |
| NM_002292.3:c.374A>C | NP_002283.3:p.Gln125Pro | |
| XM_005265127.3:c.374A>C | XP_005265184.1:p.Gln125Pro | |
| XM_005265127.4:c.374A>C | XP_005265184.1:p.Gln125Pro | |
| NM_002292.4:c.374A>C MANE Select | NP_002283.3:p.Gln125Pro |