HGVS | Genome Assembly |
---|---|
NC_000012.12:g.101757236A>G , CM000674.2:g.101757236A>G | GRCh38 |
NC_000012.11:g.102151014A>G , CM000674.1:g.102151014A>G | GRCh37 |
NC_000012.10:g.100675145A>G | NCBI36 |
NG_021243.1:g.78632T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000299314.12:c.3410T>C MANE Select | ENSP00000299314.7:p.Leu1137Ser | |
ENST00000299314.11:c.3410T>C | ENSP00000299314.7:p.Leu1137Ser | |
ENST00000549194.1:n.276T>C | ||
ENST00000549738.5:c.161T>C | ENSP00000450161.1:p.Leu54Ser | |
ENST00000550718.1:c.222T>C | ||
NM_024312.4:c.3410T>C | NP_077288.2:p.Leu1137Ser | |
XM_006719593.2:c.3410T>C | XP_006719656.1:p.Leu1137Ser | |
XM_011538731.1:c.3329T>C | XP_011537033.1:p.Leu1110Ser | |
XM_006719593.3:c.3410T>C | XP_006719656.1:p.Leu1137Ser | |
XM_011538731.2:c.3329T>C | XP_011537033.1:p.Leu1110Ser | |
XM_017019961.1:c.3194T>C | XP_016875450.1:p.Leu1065Ser | |
XM_017019962.2:c.2183T>C | XP_016875451.1:p.Leu728Ser | |
NM_024312.5:c.3410T>C MANE Select | NP_077288.2:p.Leu1137Ser |