HGVS | Genome Assembly |
---|---|
NC_000001.11:g.206841127A>C , CM000663.2:g.206841127A>C | GRCh38 |
NC_000001.10:g.207014472A>C , CM000663.1:g.207014472A>C | GRCh37 |
NC_000001.9:g.205081095A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000659997.3:c.438+49A>C MANE Select | ENSP00000499459.2:n.438+49A>C | |
ENST00000340758.7:c.438+49A>C | ENSP00000343000.3:n.438+49A>C | |
ENST00000656872.2:c.438+49A>C | ENSP00000499487.2:n.438+49A>C | |
ENST00000659997.2:c.438+49A>C | ENSP00000499459.2:n.438+49A>C | |
ENST00000270218.10:c.438+49A>C | ENSP00000270218.6:n.438+49A>C | |
ENST00000340758.6:c.552+49A>C | ENSP00000343000.2:n.552+49A>C | |
ENST00000620365.1:c.438+49A>C | ENSP00000482668.1:n.438+49A>C | |
NM_013371.3:c.438+49A>C | NP_037503.2:n.438+49A>C | |
NM_153758.2:c.552+49A>C | NP_715639.1:n.552+49A>C | |
XR_922482.1:n.701T>G | ||
XR_922482.2:n.701T>G | ||
NM_001369605.1:c.438+49A>C | NP_001356534.1:n.438+49A>C | |
NM_153758.3:c.552+49A>C | NP_715639.1:n.552+49A>C | |
NM_001393490.1:c.438+49A>C | NP_001380419.1:n.438+49A>C | |
NM_001393491.1:c.438+49A>C | NP_001380420.1:n.438+49A>C | |
NM_013371.5:c.438+49A>C | NP_037503.2:n.438+49A>C | |
NM_153758.5:c.438+49A>C MANE Select | NP_715639.2:n.438+49A>C |