HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32202790A>C , CM000668.2:g.32202790A>C | GRCh38 |
NC_000006.11:g.32170567A>C , CM000668.1:g.32170567A>C | GRCh37 |
NC_000006.10:g.32278545A>C | NCBI36 |
NG_028190.1:g.26278T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375023.3:c.3232-191T>G MANE Select | ENSP00000364163.3:n.3232-191T>G | |
ENST00000474612.1:n.1127T>G | ||
NM_004557.3:c.3232-191T>G | NP_004548.3:n.3232-191T>G | |
NR_134949.1:n.3472+980T>G | ||
NR_134950.1:n.3370+980T>G | ||
NM_004557.4:c.3232-191T>G MANE Select | NP_004548.3:n.3232-191T>G | |
NR_134949.2:n.3472+980T>G | ||
NR_134950.2:n.3370+980T>G |