HGVS | Genome Assembly |
---|---|
NC_000009.12:g.92719003T>G , CM000671.2:g.92719003T>G | GRCh38 |
NC_000009.11:g.95481285T>G , CM000671.1:g.95481285T>G | GRCh37 |
NC_000009.10:g.94521106T>G | NCBI36 |
NG_033908.1:g.50799A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000356884.11:c.1642A>C MANE Select | ENSP00000349351.6:p.Thr548Pro | |
ENST00000356884.10:c.1642A>C | ENSP00000349351.6:p.Thr548Pro | |
ENST00000375512.3:c.1642A>C | ENSP00000364662.3:p.Thr548Pro | |
NM_001003800.1:c.1642A>C | NP_001003800.1:p.Thr548Pro | |
NM_015250.3:c.1642A>C | NP_056065.1:p.Thr548Pro | |
XM_017014551.1:c.1723A>C | XP_016870040.1:p.Thr575Pro | |
NM_001003800.2:c.1642A>C MANE Select | NP_001003800.1:p.Thr548Pro | |
NM_015250.4:c.1642A>C | NP_056065.1:p.Thr548Pro |