Linked Data
dbSNP Id:
rs1394798508
gnomAD v3:
8-144414230-A-C
gnomAD v4:
8-144414230-A-C
MyVariant Identifiers:
chr8:g.144414230A>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144414230A>C , CM000670.2:g.144414230A>C | GRCh38 |
| NC_000008.10:g.145639614A>C , CM000670.1:g.145639614A>C | GRCh37 |
| NC_000008.9:g.145610422A>C | NCBI36 |
| NG_012234.2:g.7661T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301305.8:c.1149+32T>G MANE Select | ENSP00000301305.4:n.1149+32T>G | |
| ENST00000276833.9:c.1074+32T>G | ENSP00000276833.5:n.1074+32T>G | |
| ENST00000301305.7:c.1149+32T>G | ENSP00000301305.3:n.1149+32T>G | |
| NM_017767.2:c.1074+32T>G | NP_060237.2:n.1074+32T>G | |
| NM_130849.3:c.1149+32T>G | NP_570901.2:n.1149+32T>G | |
| XM_006716599.1:c.1149+32T>G | XP_006716662.1:n.1149+32T>G | |
| XM_011517153.1:c.867+32T>G | XP_011515455.1:n.867+32T>G | |
| XM_024447188.1:c.867+32T>G | XP_024302956.1:n.867+32T>G | |
| XM_024447189.1:c.867+32T>G | XP_024302957.1:n.867+32T>G | |
| NM_001374839.1:c.867+32T>G | NP_001361768.1:n.867+32T>G | |
| NM_017767.3:c.1074+32T>G | NP_060237.3:n.1074+32T>G | |
| NM_130849.4:c.1149+32T>G MANE Select | NP_570901.3:n.1149+32T>G |