MyVariant.info:
GRCh38
chr1:g.147766499A>C
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147766499A>C , CM000663.2:g.147766499A>C | GRCh38 |
| NG_009369.2:g.11876T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000430508.1:c.-34+6753T>G | ENSP00000407645.1:n.-34+6753T>G | |
| ENST00000621517.1:c.-34+6753T>G | ENSP00000484552.1:n.-34+6753T>G | |
| NM_005266.6:c.-34+6753T>G | NP_005257.2:n.-34+6753T>G | |
| XM_005272951.3:c.-33-7228T>G | XP_005273008.1:n.-33-7228T>G | |
| XM_011509415.1:c.-2178-1212T>G | XP_011507717.1:n.-2178-1212T>G | |
| XR_922078.1:n.434-11062A>C | ||
| XR_922079.1:n.434-11062A>C | ||
| XM_005272951.4:c.-33-7228T>G | XP_005273008.1:n.-33-7228T>G | |
| XM_017001044.1:c.-2019-4015T>G | XP_016856533.1:n.-2019-4015T>G | |
| XR_922079.3:n.744-11062A>C | ||
| NM_005266.7:c.-34+6753T>G | NP_005257.2:n.-34+6753T>G |