MyVariant.info:
GRCh38
chr22:g.41906460A>C
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41906460A>C , CM000684.2:g.41906460A>C | GRCh38 |
| NC_000022.10:g.42302464A>C , CM000684.1:g.42302464A>C | GRCh37 |
| NC_000022.9:g.40632410A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710853.1:c.*800A>C (SREBF2) | ENSP00000518526.1:n.*800A>C | |
| ENST00000361204.9:c.*800A>C (SREBF2) MANE Select | ENSP00000354476.4:n.*800A>C | |
| ENST00000361204.8:c.*800A>C (SREBF2) | ENSP00000354476.4:n.*800A>C | |
| ENST00000424354.5:c.*2691A>C (SREBF2) | ENSP00000395728.1:n.*2691A>C | |
| ENST00000491541.1:n.3197A>C (SREBF2) | ||
| ENST00000612482.4:c.*2271A>C (SREBF2) | ENSP00000484441.1:n.*2271A>C | |
| NM_004599.3:c.*800A>C (SREBF2) | NP_004590.2:n.*800A>C | |
| NR_103834.1:n.4938A>C (SREBF2) | ||
| XM_006724310.1:c.*800A>C (SREBF2) | XP_006724373.1:n.*800A>C | |
| XM_011530347.1:c.*800A>C (SREBF2) | XP_011528649.1:n.*800A>C | |
| XM_006724256.4:c.*3305T>G (SHISA8) | XP_006724319.1:n.*3305T>G | |
| XM_006724310.3:c.*800A>C (SREBF2) | XP_006724373.1:n.*800A>C | |
| XM_011530347.2:c.*800A>C (SREBF2) | XP_011528649.1:n.*800A>C | |
| XR_002958691.1:n.5164T>G (SHISA8) | ||
| NM_004599.4:c.*800A>C (SREBF2) MANE Select | NP_004590.2:n.*800A>C | |
| NR_103834.2:n.4912A>C (SREBF2) |