HGVS | Genome Assembly |
---|---|
NC_000009.12:g.137199297A>G , CM000671.2:g.137199297A>G | GRCh38 |
NC_000009.11:g.140093749A>G , CM000671.1:g.140093749A>G | GRCh37 |
NC_000009.10:g.139213570A>G | NCBI36 |
NG_027801.1:g.6415T>C | |
NG_027801.2:g.9897T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409012.6:c.1415T>C MANE Select | ENSP00000387100.4:p.Leu472Pro | |
ENST00000333046.8:c.809T>C | ENSP00000327617.4:p.Leu270Pro | |
ENST00000409012.4:c.1415T>C | ENSP00000387100.4:p.Leu472Pro | |
ENST00000541945.1:n.90+4807T>C | ||
NM_001128228.2:c.1415T>C | NP_001121700.2:p.Leu472Pro | |
NM_001128228.3:c.1415T>C MANE Select | NP_001121700.2:p.Leu472Pro |