MyVariant.info:
GRCh37
chr12:g.105583572A>G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.105189794A>G , CM000674.2:g.105189794A>G | GRCh38 |
| NC_000012.11:g.105583572A>G , CM000674.1:g.105583572A>G | GRCh37 |
| NC_000012.10:g.104107702A>G | NCBI36 |
| NG_030419.1:g.51437T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258530.8:c.1437T>C MANE Select | ENSP00000258530.3:p.Asp479= | |
| ENST00000258530.7:c.1437T>C | ENSP00000258530.3:p.Asp479= | |
| ENST00000539978.6:c.1308T>C | ENSP00000444472.2:p.Asp436= | |
| ENST00000547439.5:c.*722T>C | ENSP00000449410.1:n.*722T>C | |
| ENST00000547809.5:n.1447T>C | ||
| ENST00000551662.5:c.1455T>C | ENSP00000446917.1:p.Asp485= | |
| ENST00000552945.1:n.277T>C | ||
| ENST00000553109.1:c.81T>C | ENSP00000446510.1:p.Asp27= | |
| NM_001251904.1:c.1455T>C | NP_001238833.1:p.Asp485= | |
| NM_001251905.1:c.1308T>C | NP_001238834.1:p.Asp436= | |
| NM_018171.3:c.1437T>C | NP_060641.2:p.Asp479= | |
| XM_006719472.1:c.1455T>C | XP_006719535.1:p.Asp485= | |
| XM_011538530.1:c.1416T>C | XP_011536832.1:p.Asp472= | |
| XM_011538531.1:c.1326T>C | XP_011536833.1:p.Asp442= | |
| XM_011538532.1:c.1326T>C | XP_011536834.1:p.Asp442= | |
| XM_011538530.3:c.1416T>C | XP_011536832.1:p.Asp472= | |
| XM_011538531.3:c.1326T>C | XP_011536833.1:p.Asp442= | |
| XM_011538532.3:c.1326T>C | XP_011536834.1:p.Asp442= | |
| XM_017019551.2:c.1398T>C | XP_016875040.1:p.Asp466= | |
| XM_017019552.2:c.1308T>C | XP_016875041.1:p.Asp436= | |
| XM_017019553.2:c.1308T>C | XP_016875042.1:p.Asp436= | |
| XM_017019554.1:c.1437T>C | XP_016875043.1:p.Asp479= | |
| XR_001748795.1:n.1617T>C | ||
| XR_001748796.1:n.1599T>C | ||
| NM_018171.4:c.1437T>C | NP_060641.2:p.Asp479= | |
| NM_018171.5:c.1437T>C MANE Select | NP_060641.2:p.Asp479= | |
| NM_001251904.2:c.1455T>C | NP_001238833.1:p.Asp485= | |
| NM_001251905.2:c.1308T>C | NP_001238834.1:p.Asp436= |