HGVS | Genome Assembly |
---|---|
NC_000007.14:g.21567616G>T , CM000669.2:g.21567616G>T | GRCh38 |
NC_000007.13:g.21607234G>T , CM000669.1:g.21607234G>T | GRCh37 |
NC_000007.12:g.21573759G>T | NCBI36 |
NG_012886.2:g.29402G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409508.8:c.1195-2453G>T MANE Select | ENSP00000475939.1:n.1195-2453G>T | |
ENST00000328843.10:c.1195-2453G>T | ENSP00000330671.7:n.1195-2453G>T | |
ENST00000409508.7:c.1195-2453G>T | ENSP00000475939.1:n.1195-2453G>T | |
ENST00000496218.1:n.81-2453G>T | ||
ENST00000620169.4:c.1195-2453G>T | ENSP00000481693.1:n.1195-2453G>T | |
NM_001277115.1:c.1195-2453G>T | NP_001264044.1:n.1195-2453G>T | |
XR_927090.1:n.563+5710C>A | ||
XR_001745114.1:n.2793+5710C>A | ||
NM_001277115.2:c.1195-2453G>T MANE Select | NP_001264044.1:n.1195-2453G>T |