HGVS | Genome Assembly |
---|---|
NC_000007.14:g.93101519A>C , CM000669.2:g.93101519A>C | GRCh38 |
NC_000007.13:g.92730832A>C , CM000669.1:g.92730832A>C | GRCh37 |
NC_000007.12:g.92568768A>C | NCBI36 |
NG_023419.1:g.21505T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000379958.3:c.4579T>G MANE Select | ENSP00000369292.2:p.Leu1527Val | |
ENST00000379958.2:c.4579T>G | ENSP00000369292.2:p.Leu1527Val | |
ENST00000620985.4:c.4579T>G | ENSP00000484636.1:p.Leu1527Val | |
NM_001193307.1:c.4579T>G | NP_001180236.1:p.Leu1527Val | |
NM_017654.3:c.4579T>G | NP_060124.2:p.Leu1527Val | |
NM_017654.4:c.4579T>G MANE Select | NP_060124.2:p.Leu1527Val | |
NM_001193307.2:c.4579T>G | NP_001180236.1:p.Leu1527Val |