MyVariant.info:
GRCh37
chr1:g.172362949G>C
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.172393809G>C , CM000663.2:g.172393809G>C | GRCh38 |
| NC_000001.10:g.172362949G>C , CM000663.1:g.172362949G>C | GRCh37 |
| NC_000001.9:g.170629572G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000485254.3:c.2540+5000G>C (DNM3) | ENSP00000429165.2:n.2540+5000G>C | |
| ENST00000627582.3:c.2522+5000G>C (DNM3) MANE Select | ENSP00000486701.1:n.2522+5000G>C | |
| ENST00000355305.9:c.2540+5000G>C (DNM3) | ENSP00000347457.5:n.2540+5000G>C | |
| ENST00000367731.5:c.2510+5000G>C (DNM3) | ENSP00000356705.1:n.2510+5000G>C | |
| ENST00000475059.5:n.181+6010C>G (PIGC) | ||
| ENST00000484368.1:n.986C>G (PIGC) | ||
| ENST00000485254.2:c.629+5000G>C (DNM3) | ENSP00000429165.1:n.629+5000G>C | |
| ENST00000489002.5:n.131+6010C>G (PIGC) | ||
| ENST00000627582.2:c.2522+5000G>C (DNM3) | ENSP00000486701.1:n.2522+5000G>C | |
| NM_001136127.2:c.2510+5000G>C (DNM3) | NP_001129599.1:n.2510+5000G>C | |
| NM_015569.4:c.2522+5000G>C (DNM3) | NP_056384.2:n.2522+5000G>C | |
| XM_005245079.1:c.2552+5000G>C (DNM3) | XP_005245136.1:n.2552+5000G>C | |
| XM_005245080.1:c.2540+5000G>C (DNM3) | XP_005245137.1:n.2540+5000G>C | |
| XM_005245081.1:c.2552+5000G>C (DNM3) | XP_005245138.1:n.2552+5000G>C | |
| XM_005245082.3:c.2222+5000G>C (DNM3) | XP_005245139.1:n.2222+5000G>C | |
| XM_011509401.1:c.2552+5000G>C (DNM3) | XP_011507703.1:n.2552+5000G>C | |
| XR_426864.2:n.825C>G | ||
| XR_922283.1:n.864C>G | ||
| XR_922284.1:n.804C>G | ||
| XR_922285.1:n.765C>G | ||
| XR_922286.1:n.909C>G | ||
| NM_001350204.1:c.2540+5000G>C (DNM3) | NP_001337133.1:n.2540+5000G>C | |
| NM_001350206.1:c.2540+5000G>C (DNM3) | NP_001337135.1:n.2540+5000G>C | |
| NR_146559.1:n.2735+5000G>C (DNM3) | ||
| XM_017000976.1:c.2696+5000G>C (DNM3) | XP_016856465.1:n.2696+5000G>C | |
| XM_017000977.1:c.2684+5000G>C (DNM3) | XP_016856466.1:n.2684+5000G>C | |
| XM_017000978.1:c.2666+5000G>C (DNM3) | XP_016856467.1:n.2666+5000G>C | |
| XM_017000979.1:c.2696+5000G>C (DNM3) | XP_016856468.1:n.2696+5000G>C | |
| XM_017000980.1:c.2567+5000G>C (DNM3) | XP_016856469.1:n.2567+5000G>C | |
| XM_017000982.2:c.*324G>C (DNM3) | XP_016856471.1:n.*324G>C | |
| XM_017000983.1:c.2522+5000G>C (DNM3) | XP_016856472.1:n.2522+5000G>C | |
| XM_017000984.1:c.2510+5000G>C (DNM3) | XP_016856473.1:n.2510+5000G>C | |
| XM_017000985.1:c.*324G>C (DNM3) | XP_016856474.1:n.*324G>C | |
| XM_017000986.1:c.*324G>C (DNM3) | XP_016856475.1:n.*324G>C | |
| XM_017000987.1:c.2222+5000G>C (DNM3) | XP_016856476.1:n.2222+5000G>C | |
| XR_001737108.1:n.2730+5000G>C (DNM3) | ||
| XR_001737110.1:n.2574+5000G>C (DNM3) | ||
| XR_001737111.1:n.2442+5000G>C (DNM3) | ||
| NM_015569.5:c.2522+5000G>C (DNM3) MANE Select | NP_056384.2:n.2522+5000G>C | |
| NM_001136127.3:c.2510+5000G>C (DNM3) | NP_001129599.1:n.2510+5000G>C | |
| NM_001350204.2:c.2540+5000G>C (DNM3) | NP_001337133.1:n.2540+5000G>C | |
| NM_001350206.2:c.2540+5000G>C (DNM3) | NP_001337135.1:n.2540+5000G>C | |
| NR_146559.2:n.2715+5000G>C (DNM3) |