Linked Data
dbSNP Id:
rs908944355
gnomAD v2:
X-91393644-T-C
gnomAD v3:
X-92138645-T-C
gnomAD v4:
X-92138645-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.92138645T>C , CM000685.2:g.92138645T>C | GRCh38 |
| NC_000023.10:g.91393644T>C , CM000685.1:g.91393644T>C | GRCh37 |
| NC_000023.9:g.91280300T>C | NCBI36 |
| NG_016251.1:g.364385T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682573.1:c.3034-62730T>C MANE Select | ENSP00000507225.1:n.3034-62730T>C | |
| ENST00000361655.6:c.3034-62730T>C | ENSP00000355105.2:n.3034-62730T>C | |
| ENST00000373088.5:c.3034-249090T>C | ENSP00000362180.1:n.3034-249090T>C | |
| ENST00000373094.5:c.3034-62730T>C | ENSP00000362186.1:n.3034-62730T>C | |
| ENST00000373097.5:c.3034-62730T>C | ENSP00000362189.1:n.3034-62730T>C | |
| ENST00000406881.3:c.3034-62730T>C | ENSP00000384758.1:n.3034-62730T>C | |
| ENST00000504220.6:c.3034-62730T>C | ENSP00000423762.1:n.3034-62730T>C | |
| NM_001168360.1:c.3034-62730T>C | NP_001161832.1:n.3034-62730T>C | |
| NM_001168361.1:c.3034-62730T>C | NP_001161833.1:n.3034-62730T>C | |
| NM_001168362.1:c.3034-249090T>C | NP_001161834.1:n.3034-249090T>C | |
| NM_001168363.1:c.3034-62730T>C | NP_001161835.1:n.3034-62730T>C | |
| NM_032968.4:c.3034-62730T>C | NP_116750.1:n.3034-62730T>C | |
| NM_032969.4:c.3034-62730T>C | NP_116751.1:n.3034-62730T>C | |
| XM_011530910.1:c.3121-62730T>C | XP_011529212.1:n.3121-62730T>C | |
| XM_011530911.1:c.3121-62730T>C | XP_011529213.1:n.3121-62730T>C | |
| XM_011530912.1:c.3121-62730T>C | XP_011529214.1:n.3121-62730T>C | |
| XM_011530913.1:c.3121-62730T>C | XP_011529215.1:n.3121-62730T>C | |
| XM_011530914.1:c.3034-62730T>C | XP_011529216.1:n.3034-62730T>C | |
| XM_011530911.2:c.3121-62730T>C | XP_011529213.1:n.3121-62730T>C | |
| XM_011530912.2:c.3121-62730T>C | XP_011529214.1:n.3121-62730T>C | |
| XM_011530913.2:c.3121-62730T>C | XP_011529215.1:n.3121-62730T>C | |
| XM_011530914.2:c.3034-62730T>C | XP_011529216.1:n.3034-62730T>C | |
| XM_017029416.1:c.3034-62730T>C | XP_016884905.1:n.3034-62730T>C | |
| XM_017029417.1:c.3121-62730T>C | XP_016884906.1:n.3121-62730T>C | |
| XM_017029418.1:c.3121-62730T>C | XP_016884907.1:n.3121-62730T>C | |
| XM_017029419.1:c.3034-249090T>C | XP_016884908.1:n.3034-249090T>C | |
| XM_017029420.1:c.3121-249090T>C | XP_016884909.1:n.3121-249090T>C | |
| XM_017029421.1:c.3034-62730T>C | XP_016884910.1:n.3034-62730T>C | |
| NM_032968.5:c.3034-62730T>C MANE Select | NP_116750.1:n.3034-62730T>C |